FGFR4c.1162G>ABenign

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Variant interpretation report

FGFR4 c.1162G>A, p.(Gly388Arg)

NM_213647.2:c.1162G>A NP_998812.1:p.(Gly388Arg) View identifiers

Classification

Benign

Variant description:

No variant summary was recorded for this case.

Five-step scale from benign to pathogenic. This variant is benign. Select a step to read what it means.

Benign.A benign classification under the recorded framework.

In plain language

Gene-level background from the recorded interpretation.

About FGFR4

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 stand alone (benign) · 2 strong (benign) · 3 supporting (benign)
Expert rules: Not recorded
Other laboratories (ClinVar): 3 Benign
Pipeline record: 15 Jul 2026 · version 7.0.3

Evidence considered

View criteria

Applied evidence criteria

BA1 (stand alone): Extremely high population frequency: gnomAD v2.1 AF=32.1% (89,487/278,670 alleles, 15,309 homozygotes) and gnomAD v4.1 AF=30.3% (487,943/1,612,462 alleles, 76,363 homozygotes). Far exceeds the BA1 threshold of >1%.
BS1 (strong): Variant frequency (gnomAD AF=32.1%) far exceeds the threshold for any rare monogenic disorder (BS1 threshold >0.3%), and is inconsistent with a highly penetrant pathogenic role.
BS2 (strong): Observed in homozygous state in 15,309 individuals in gnomAD v2.1 (76,363 in v4.1), demonstrating the variant is compatible with normal development and inconsistent with a fully penetrant pathogenic variant causing a severe monogenic disorder.
BP1 (supporting): Missense variant in FGFR4, a gene for which loss-of-function is the documented disease mechanism in germline FGFR4-related disorders (familial pituitary adenomas). Truncating variants, not missense changes, are the primarily established pathogenic variant type.
BP4 (supporting): Multiple in silico predictors suggest no deleterious impact: BayesDel score=0.0305 (benign), REVEL=0.519 (borderline/neutral), SpliceAI max delta=0.02 (no splicing impact).
BP6 (supporting): ClinVar classifies this variant as Benign based on submissions from 3 clinical laboratories (ClinVar VariationID 16326).

LYFE Sciences is an AI system, and it can make mistakes. Criteria may be applied incorrectly, sources may be misread, and a confident-looking classification can still be wrong. Double-check every criterion and its underlying evidence before relying on any call.

01The reasoning

How it was classified

The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.

Recorded applied criteria

The applied criteria and their strengths are shown as assessed under the stated framework.

Pathogenic evidence criteria: 0 Benign evidence criteria: 6

Pathogenic criteria applied · 0

No pathogenic criterion marked as applied in the recorded assessment.

Benign criteria applied · 6

BA1Stand alone

BA1 · stand alone

Extremely high population frequency: gnomAD v2.1 AF=32.1% (89,487/278,670 alleles, 15,309 homozygotes) and gnomAD v4.1 AF=30.3% (487,943/1,612,462 alleles, 76,363 homozygotes). Far exceeds the BA1 threshold of >1%.

BS1Strong

BS1 · strong

Variant frequency (gnomAD AF=32.1%) far exceeds the threshold for any rare monogenic disorder (BS1 threshold >0.3%), and is inconsistent with a highly penetrant pathogenic role.

BS2Strong

BS2 · strong

Observed in homozygous state in 15,309 individuals in gnomAD v2.1 (76,363 in v4.1), demonstrating the variant is compatible with normal development and inconsistent with a fully penetrant pathogenic variant causing a severe monogenic disorder.

BP1Supporting

BP1 · supporting

Missense variant in FGFR4, a gene for which loss-of-function is the documented disease mechanism in germline FGFR4-related disorders (familial pituitary adenomas). Truncating variants, not missense changes, are the primarily established pathogenic variant type.

BP4Supporting

BP4 · supporting

Multiple in silico predictors suggest no deleterious impact: BayesDel score=0.0305 (benign), REVEL=0.519 (borderline/neutral), SpliceAI max delta=0.02 (no splicing impact).

BP6Supporting

BP6 · supporting

ClinVar classifies this variant as Benign based on submissions from 3 clinical laboratories (ClinVar VariationID 16326).

Recorded classification: Benign

gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: BA1 stand-alone benign, BS1 strong benign, BS2 strong benign, BP1 supporting benign, BP4 supporting benign, BP6 supporting benign; combination = 1 stand-alone benign + 2 strong benign + 3 supporting benign, which maps to Benign.

02The sources

Evidence at a glance

Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.

gnomAD v4.1

gnomAD v2.1

Population frequency

487,943 / 1,612,462 alleles

gnomAD v4.1: 487,943 / 1,612,462 alleles. Recorded AF 0.302607. Recorded homozygote count 76363.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 0.321122; MAF= 32.11218%, 89487/278670 alleles, homozygotes = 15309) and has highest observed frequency in the East Asian population (AF= 0.450672; MAF= 45.06722%, 8917/19786 alleles, homozygotes = 2008); grpmax FAF= 0.441438.

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.3066724625081504, 5644/18404 alleles, homozygotes = 883).

Applied · BA1, BS1, BS2 →

gnomAD v4.1 ↗gnomAD v2.1 ↗gnomAD-Canada ↗

SpliceAI score

0.020 maximum delta

Recorded SpliceAI maximum delta score: 0.020. Refer to the recorded PP3/BP4 rationale for interpretation.

Applied · BP4 → SpliceAI ↗

ClinVar submissions

3 reported laboratory submissions

3 Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.

Applied · BP6 → ClinVar ↗

Functional evidence

Statement recorded

OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. FGFR4, a receptor tyrosine kinase, is altered by mutation, chromosomal rearrangement or amplification at low frequencies in various cancer types.

No listed criterion applied OncoKB ↗

COSMIC

Cancer Hotspots

Somatic evidence

88 recorded samples

This variant has previously been reported in somatic cancers (COSMIC; COSV52800825, n = 88 times).

Cancer Hotspots

This variant does not lie in a statistically significant hotspot.

Context only

COSMIC ↗Cancer Hotspots ↗

For specialists

Technical detail

ACMG/AMP criteria under Not recorded, with the data and sources behind each one.

27 criteria with recorded statuses: 6 met · 9 not met · 0 not assessed · 12 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PS5

Benign

BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7

Met Not met Not assessed Not applicable

FGFR4 c.1162G>A (p.Gly388Arg) is an extremely common polymorphism with a global allele frequency of 32.1% in gnomAD v2.1 (89,487/278,670 alleles, 15,309 homozygotes) and 30.3% in gnomAD v4.1 (487,943/1,612,462 alleles, 76,363 homozygotes), meeting BA1 (stand-alone benign).

The variant frequency far exceeds the threshold for any rare monogenic disorder (BS1 threshold >0.3%), with the highest subpopulation frequency of 45.1% in East Asians.

The variant has been observed in the homozygous state in 15,309 individuals in gnomAD v2.1, consistent with Hardy-Weinberg equilibrium for a common benign polymorphism and incompatible with a fully penetrant pathogenic variant (BS2).

FGFR4 germline disease is associated with loss-of-function; this is a missense variant not expected to recapitulate the LoF disease mechanism (BP1).

Multiple in silico predictors are consistent with a benign interpretation: BayesDel score 0.0305 (benign), REVEL 0.519 (neutral), and SpliceAI max delta 0.02 (no splicing impact) (BP4).

ClinVar classifies this variant as Benign based on submissions from 3 clinical laboratories (ClinVar VariationID 16326) (BP6).

Functional studies demonstrate FGFR4 G388R has gain-of-function effects (STAT3 binding, increased cancer cell motility) in cancer models, but these do not establish pathogenicity for a monogenic germline disorder and are superseded by the overwhelming population frequency evidence.

Met · 6

BA1 Stand aloneExtremely high population frequency: gnomAD v2.1 AF=32.1% (89,487/278,670 alleles, 15,309 homozygotes) and gnomAD v4.1 AF=30.3% (487,943/1,612,462 alleles, 76,363 homozygotes). Far exceeds the BA1 threshold of >1%. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 89
487/278
670 alleles
15
309 homozygotes
global AF=32.1%.
gnomAD v4.1: 487
943/1
612
462 alleles
76
363 homozygotes
global AF=30.3%.
Highest subpopulation frequency: East Asian
AF=45.1% (v2.1) / 43.8% (v4.1).

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS1 StrongVariant frequency (gnomAD AF=32.1%) far exceeds the threshold for any rare monogenic disorder (BS1 threshold >0.3%), and is inconsistent with a highly penetrant pathogenic role. Details ▾Hide ▴

Evidence considered

Global AF=32.1% (v2.1) and 30.3% (v4.1)
orders of magnitude above the BS1 threshold of >0.3%.
Observed across all major population groups with AF ranging from 12.9% (African) to 45.1% (East Asian).

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS2 StrongObserved in homozygous state in 15,309 individuals in gnomAD v2.1 (76,363 in v4.1), demonstrating the variant is compatible with normal development and inconsistent with a fully penetrant pathogenic variant causing a severe monogenic disorder. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 15
309 homozygotes observed.
gnomAD v4.1: 76
363 homozygotes observed.
Homozygote counts are consistent with Hardy-Weinberg equilibrium for a common polymorphism.

Sources

gnomad_v2 ↗gnomad_v4 ↗

BP1 SupportingMissense variant in FGFR4, a gene for which loss-of-function is the documented disease mechanism in germline FGFR4-related disorders (familial pituitary adenomas). Truncating variants, not missense changes, are the primarily established pathogenic variant type. Details ▾Hide ▴

Evidence considered

FGFR4 germline disease mechanism is loss-of-function (supported by PMID:26186299 and other sources).
Missense variants in a primarily LoF disease gene are less likely to be pathogenic.

Sources

pvs1_gene_context

BP4 SupportingMultiple in silico predictors suggest no deleterious impact: BayesDel score=0.0305 (benign), REVEL=0.519 (borderline/neutral), SpliceAI max delta=0.02 (no splicing impact). Details ▾Hide ▴

Evidence considered

BayesDel: 0.0305 (strongly benign).
REVEL: 0.519 (neutral
well below pathogenic threshold of ~0.75).
SpliceAI: max delta 0.02 (no predicted splicing alteration).

Sources

revelbayesdelspliceai ↗

BP6 SupportingClinVar classifies this variant as Benign based on submissions from 3 clinical laboratories (ClinVar VariationID 16326). Details ▾Hide ▴

Evidence considered

ClinVar VariationID 16326: Benign classification
criteria provided (single submitter tier).
3 clinical laboratories independently classify as Benign.

Sources

clinvar ↗

Not met · 9 · evaluated, threshold not reached

PS1 No alternative nucleotide change at codon 388 resulting in the same amino acid substitution (p.Gly388Arg) has been reported as pathogenic in ClinVar. Details ▾Hide ▴

Evidence considered

Only the G>A change is reported at this codon
no independent pathogenic variant producing the same amino acid change.

Sources

clinvar ↗

PS3 Functional studies demonstrate that FGFR4 p.Gly388Arg alters receptor biology (STAT3 binding site exposure, increased cancer cell motility), but these are gain-of-function effects in cancer models rather than evidence of a deleterious effect causing a monogenic germline disorder. The variant is an established common polymorphism (gnomAD AF >30%). Details ▾Hide ▴

Evidence considered

PMID:11830541: FGFR4 Arg388 allele associated with increased cancer cell motility and tumor progression in mammary carcinoma cell lines.
PMID:26675719: FGFR4 p.G388R exposes a membrane-proximal STAT3 binding site
described as a commonly occurring SNP (rs351855).

Sources

PMID:11830541 ↗PMID:26675719 ↗

PS4 No case-control data comparing affected versus unaffected individuals for a specific FGFR4-related monogenic germline disorder are available. Details ▾Hide ▴

Still missing

No case-control studies for FGFR4 germline disease.

PM1 The variant lies in the transmembrane domain of FGFR4 but is not located in a statistically significant mutational hotspot (cancerhotspots.org: not significant). The extremely high population frequency (gnomAD AF >30%) is inconsistent with a pathogenic mutational hotspot. Details ▾Hide ▴

Evidence considered

cancerhotspots.org: residue 388 is not a statistically significant hotspot.
gnomAD: AF >30% across populations indicates this is a common polymorphism
not a disease-associated hotspot.

Sources

gnomad_v2 ↗gnomad_v4 ↗

PM2 Variant is extremely common in population databases (gnomAD v2.1 AF=32.1%, v4.1 AF=30.3%), far exceeding the PM2 threshold of <0.1%. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 89
487/278
670 alleles (AF=32.1%)
15
309 homozygotes.
gnomAD v4.1: 487
943/1
612
462 alleles (AF=30.3%)
76
363 homozygotes.

Sources

gnomad_v2 ↗gnomad_v4 ↗

PP2 FGFR4 does not have a low rate of benign missense variation; this variant itself is a common polymorphism present in over 30% of the general population. Details ▾Hide ▴

Evidence considered

FGFR4 tolerates missense variation
p.Gly388Arg alone has AF >30% in gnomAD.

Sources

gnomad_v2 ↗gnomad_v4 ↗

PP3 Multiple in silico predictors do not support a deleterious effect: BayesDel score=0.0305 (benign), REVEL=0.519 (borderline/neutral), SpliceAI max delta=0.02 (no splicing impact). Details ▾Hide ▴

Evidence considered

REVEL: 0.519 (below typical pathogenic threshold of ~0.75).
BayesDel: 0.0305 (strongly benign
well below pathogenic threshold).
SpliceAI: max delta score 0.02 (no predicted splice alteration).

Sources

revelbayesdelspliceai ↗

PP5 ClinVar consensus is Benign (3 clinical laboratories). The OMIM submission (SCV000038000) classifying the variant as Pathogenic is flagged as literature-only with no assertion criteria and is contradicted by current clinical consensus. Details ▾Hide ▴

Evidence considered

ClinVar VariationID 16326: Benign classification by 3 clinical laboratories (criteria provided
single submitter).
OMIM SCV000038000: Pathogenic
flagged submission
literature only
no assertion criteria — minimal evidentiary weight.

Sources

clinvar ↗

BS3 Published functional studies (PMID:11830541, PMID:26675719) demonstrate that FGFR4 p.Gly388Arg has biological activity (STAT3 binding, altered cancer cell motility) rather than no effect. Evidence of a gain-of-function alteration does not constitute evidence of no damaging effect for BS3. Details ▾Hide ▴

Evidence considered

PMID:11830541: FGFR4 Arg388 allele promotes cancer cell motility.
PMID:26675719: FGFR4 p.G388R exposes a membrane-proximal STAT3 binding site.

Sources

PMID:11830541 ↗PMID:26675719 ↗

Not applicable · 12· recorded as not applicable Show reasons ▾Hide reasons ▴

PVS1 N/AMissense variant (p.Gly388Arg); does not fall into a null-variant bucket (nonsense, frameshift, or canonical ±1,2 splice consensus variants). Details ▾Hide ▴

Evidence considered

Missense substitution at codon 388 in FGFR4 exon 9
not a predicted null variant.

Sources

pvs1_gene_contextpvs1_variant_assessment

PS2 N/ANo de novo data available for this variant. Details ▾Hide ▴

No further detail was recorded.

PM5 N/ANo pathogenic missense variants at codon 388 were identified in ClinVar; PM5 candidate search returned no comparator variants. Details ▾Hide ▴

Evidence considered

PM5 candidate harvesting found zero same-residue pathogenic comparator variants in ClinVar.

Sources

pm5_candidatesclinvar ↗

PM6 N/ANo de novo data available for this variant. Details ▾Hide ▴

No further detail was recorded.

PP1 N/ANo segregation data available. Details ▾Hide ▴

No further detail was recorded.

PP4 N/ANo patient phenotype or clinical data available. Details ▾Hide ▴

No further detail was recorded.

BS4 N/ANo segregation data available. Details ▾Hide ▴

No further detail was recorded.

BP2 N/ANo data on observation in trans with a known pathogenic variant. Details ▾Hide ▴

No further detail was recorded.

BP3 N/AThis is a substitution variant, not an in-frame deletion/insertion in a repetitive region. Details ▾Hide ▴

No further detail was recorded.

BP5 N/ANo data on observation in cases with an alternate molecular basis for disease. Details ▾Hide ▴

No further detail was recorded.

BP7 N/AMissense variant (p.Gly388Arg), not a synonymous variant. Details ▾Hide ▴

No further detail was recorded.

PS5 N/APS5 is not a standard criterion in the ACMG/AMP 2015 framework used for this classification. Details ▾Hide ▴

No further detail was recorded.

Identifiers

Gene: FGFR4
Transcript: NM_213647.2
Coding (HGVS c.): NM_213647.2:c.1162G>A
Protein (HGVS p.): NP_998812.1:p.(Gly388Arg)
GRCh38: chr5:177093242 G>A
GRCh37: chr5:176520243 G>A
ClinVar: 16326
COSMIC: COSV52800825

Gene diagram

Every interpreted variant in FGFR4, mapped onto the exon structure of NM_213647.2. Select a row to find it on the plot.

FGFR4NM_213647.2

Fetching transcript structure from UCSC…

Exons

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Transcript span

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Strand

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Variants mapped

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Source

UCSC ncbiRefSeqCurated

All variants in FGFR4 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 487,943 / 1,612,462 alleles AF 0.303 · 76363 homozygotes · FAF 0.433

gnomAD v2.1 89,487 / 278,670 alleles AF 0.321 · 15309 homozygotes · FAF 0.441

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 0.3 · 487943 / 1,612,462 alleles · 76363 hom · FAF 0.43

East Asian19626 / 44,778	0.444303 hom
Admixed American23199 / 59,888	0.394684 hom
South Asian31927 / 91,004	0.355806 hom
European (Finnish)20954 / 63,772	0.333513 hom
Ashkenazi Jewish9351 / 29,532	0.321477 hom
Remaining individuals19204 / 62,440	0.313037 hom
European (non-Finnish)351873 / 1,179,108	0.352564 hom
Middle Eastern1740 / 6,050	0.29267 hom
Amish248 / 912	0.2732 hom
African/African American9821 / 74,978	0.13680 hom

gnomAD v2.1

AF 0.32 · 89487 / 278,670 alleles · 15309 hom · FAF 0.44

East Asian8917 / 19,786	0.452008 hom
Admixed American14782 / 35,216	0.423124 hom
South Asian10745 / 30,522	0.351929 hom
European (Finnish)8097 / 24,858	0.331399 hom
Ashkenazi Jewish3254 / 10,218	0.32512 hom
Remaining individuals2261 / 7,124	0.32349 hom
European (non-Finnish)38234 / 126,270	0.35780 hom
African/African American3197 / 24,676	0.13208 hom

gnomAD-Canada

AF not recorded · ? / ? alleles

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 0.302607; MAF= 30.26074%, 487943/1612462 alleles, homozygotes = 76363) and has highest observed frequency in the East Asian population (AF= 0.438296; MAF= 43.82956%, 19626/44778 alleles, homozygotes = 4303); grpmax FAF= 0.433162.

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.3066724625081504, 5644/18404 alleles, homozygotes = 883).

Open the gnomAD-Canada detail page →

SpliceAI and Pangolin

SpliceAI acceptor lossat -109 bp

0.020

SpliceAI acceptor gainat +90 bp

0.020

SpliceAI donor lossat +89 bp

0.010

SpliceAI donor gainat -65 bp

0.020

Pangolin splice lossmagnitude shown

-0.030

Pangolin splice gain

0.000

Other predictors

REVEL: 0.519
BayesDel: 0.030

How the predictions were used

Evidence considered

BayesDel: 0.0305 (strongly benign).
REVEL: 0.519 (neutral
well below pathogenic threshold of ~0.75).
SpliceAI: max delta 0.02 (no predicted splicing alteration).

Sources

revelbayesdelspliceai ↗

Evidence considered

REVEL: 0.519 (below typical pathogenic threshold of ~0.75).
BayesDel: 0.0305 (strongly benign
well below pathogenic threshold).
SpliceAI: max delta score 0.02 (no predicted splice alteration).

Sources

revelbayesdelspliceai ↗

BP7 N/AMissense variant (p.Gly388Arg), not a synonymous variant. Details ▾Hide ▴

No further detail was recorded.

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.02). REVEL score = 0.519. BayesDel score = 0.0304758.

4 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.

Recorded publications

Cancer progression and tumor cell motility are associated with the FGFR4 Arg(388) allele.

Bange J et al. · 2002

FGFR4 Arg388 allele (c.1162G>A, p.Gly388Arg) was discovered in MDA-MB-453 mammary carcinoma cells. Expression of the Arg388 allele in cancer cell lines was associated with increased cell motility and tumor progression in mouse models.
Names this variant
PMID 11830541 ↗
Quoted passage
In the FGFR4 gene transcript from MDA-MB-453 mammary carcinoma cells, a G to A conversion was discovered that results in the substitution of glycine by arginine at position 388 in the transmembrane domain of the receptor.
Abstract; full text not available for review.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S et al. · 2015

ACMG/AMP 2015 standards and guidelines for variant interpretation. FGFR4 c.1162G>A was not discussed in this paper.
Does not name this variant
PMID 25741868 ↗
Germline variant FGFR4  p.G388R exposes a membrane-proximal STAT3 binding site.

Ulaganathan VK et al. · 2015

FGFR4 p.Gly388Arg (rs351855, c.1162G>A) is a common SNP that exposes a membrane-proximal STAT3 binding site. The Arg388 variant enhances STAT3 signaling and was shown to promote oncogenic effects.
Names this variant
PMID 26675719 ↗
Quoted passage
Variant rs351855-G/A is a commonly occurring single-nucleotide polymorphism of coding regions in exon 9 of the fibroblast growth factor receptor FGFR4 (CD334) gene (c.1162G>A). It results in an amino-acid change at codon 388 from glycine to arginine (p.Gly388Arg) in the transmembrane domain of the receptor.
Abstract; full text not available for review.
High-depth African genomes inform human migration and health.

Choudhury A et al. · 2020

High-depth whole-genome sequencing of 426 African individuals; reports population genetic variation. FGFR4 c.1162G>A was not discussed in this paper.
Does not name this variant
PMID 33116287 ↗

Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.

gnomAD v4.1 487,943 / 1,612,462 recorded alleles Open source ↗

gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗

SpliceAI Lookup Recorded maximum delta 0.020 Open source ↗

ClinVar 3 Benign Open source ↗

COSMIC Captured COSMIC source record Open source ↗

Cancer hotspots Captured Cancer Hotspots source record Open source ↗

OncoKB Captured OncoKB source record Open source ↗

All source links

Statements for reports

The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.

gnomAD v4.1

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.3066724625081504, 5644/18404 alleles, homozygotes = 883).

ClinVar

This variant has been reported in ClinVar as Benign (3 clinical laboratories). (ClinVarID = 16326)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.02). REVEL score = 0.519. BayesDel score = 0.0304758.

Functional

Somatic

This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV52800825, n = 88 times).

Cancer Hotspots

This variant does not lie in a statistically significant hotspot.