GNA11c.605+2_606delLikely pathogenic

Print report

Variant interpretation report

GNA11 c.605+2_606del, p.?

NM_002067.5:c.605+2_606del NP_002058.2:p.? View identifiers

Classification

Likely pathogenic

Variant description:

No variant summary was recorded for this case.

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

Likely pathogenic.A likely pathogenic classification under the recorded framework.

In plain language

Gene-level background from the recorded interpretation.

About GNA11

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 very strong (pathogenic) · 1 moderate (pathogenic)
Expert rules: Not recorded
Pipeline record: 22 Jul 2026 · version 7.0.4

Evidence considered

View criteria

Applied evidence criteria

PVS1 (very strong): This variant deletes the canonical donor splice site at c.605+2 and extends into exon 5 (c.606), abolishing the intron 4 splice donor consensus. GNA11 loss of function is an established germline disease mechanism associated with capillary malformations and vascular anomalies. Under ClinGen SVI PVS1 recommendations (PMC6185798), canonical ±1,2 splice site variants in genes with established LOF mechanism qualify for PVS1 at very strong strength. The affected exon 5 is biologically relevant and the variant is absent from all population databases.
PM2 (moderate): This variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases, meeting the allele frequency threshold for PM2 (<0.1%) under generic ACMG/AMP guidelines.

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: 2 Benign evidence criteria: 0

Pathogenic criteria applied · 2

PVS1Very strong

PVS1 · very strong

This variant deletes the canonical donor splice site at c.605+2 and extends into exon 5 (c.606), abolishing the intron 4 splice donor consensus. GNA11 loss of function is an established germline disease mechanism associated with capillary malformations and vascular anomalies. Under ClinGen SVI PVS1 recommendations (PMC6185798), canonical ±1,2 splice site variants in genes with established LOF mechanism qualify for PVS1 at very strong strength. The affected exon 5 is biologically relevant and the variant is absent from all population databases.

PM2Moderate

PM2 · moderate

This variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases, meeting the allele frequency threshold for PM2 (<0.1%) under generic ACMG/AMP guidelines.

Benign criteria applied · 0

No benign criterion marked as applied in the recorded assessment.

Recorded classification: Likely pathogenic

gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: PVS1 very strong, PM2 moderate; combination = 1 very strong + 1 moderate, which maps to Likely Pathogenic.

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

Not recorded

gnomAD v4.1 allele counts were not recorded for this variant.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

Applied · PM2 →

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

No screenshot for this evidence

Computational predictions

Not recorded

No SpliceAI or REVEL score is recorded in the fields used for this tile.

No listed criterion applied

ClinVar submissions

Not recorded

A ClinVar laboratory submission summary was not recorded.

Context only ClinVar ↗

No screenshot for this evidence

Functional evidence

Not recorded

No standalone functional evidence summary is recorded in evidence_summary.functional.

No listed criterion applied OncoKB ↗

Somatic evidence

No matching record reported

This variant has not previously been reported in somatic cancers (COSMIC).

Context only COSMIC ↗

For specialists

Technical detail

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

29 criteria with recorded statuses: 2 met · 7 not met · 9 not assessed · 11 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 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

NM_002067.5:c.605+2_606del is a canonical donor splice site deletion affecting intron 4 of GNA11, a gene for which loss of function is an established germline disease mechanism associated with capillary malformations and vascular anomalies.

This variant abolishes the splice donor consensus sequence and is predicted to result in aberrant splicing with likely frameshift and nonsense-mediated decay, qualifying for PVS1 at very strong strength under ClinGen SVI PVS1 recommendations (PMC6185798).

The variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases, meeting PM2 at moderate strength under generic ACMG/AMP guidelines.

The variant is absent from ClinVar and has not been reported in the literature; no functional data, de novo observations, or co-segregation data are available.

Applying generic ACMG/AMP 2015 combination rules (PMID:25741868): one very strong criterion (PVS1) plus one moderate criterion (PM2) classifies this variant as Likely Pathogenic.

Met · 2

PVS1 Very strongThis variant deletes the canonical donor splice site at c.605+2 and extends into exon 5 (c.606), abolishing the intron 4 splice donor consensus. GNA11 loss of function is an established germline disease mechanism associated with capillary malformations and vascular anomalies. Under ClinGen SVI PVS1 recommendations (PMC6185798), canonical ±1,2 splice site variants in genes with established LOF mechanism qualify for PVS1 at very strong strength. The affected exon 5 is biologically relevant and the variant is absent from all population databases. Details ▾Hide ▴

Evidence considered

Canonical donor splice site deletion (c.605+2_606del) abolishes intron 4 splice donor consensus
GNA11 loss of function is an established germline disease mechanism supported by literature
Absent from gnomAD v2.1
v4.1
and gnomAD-Canada
Transcript NM_002067.5 is MANE Select
confirming biological relevance

Still missing

No RNA studies to confirm aberrant splicing outcome
No variant-specific functional data

Sources

pvs1_generic_framework ↗gnomad_v2 ↗gnomad_v4 ↗gnomad_canada ↗

PM2 ModerateThis variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases, meeting the allele frequency threshold for PM2 (<0.1%) under generic ACMG/AMP guidelines. Details ▾Hide ▴

Evidence considered

Absent from gnomAD v2.1 (exomes)
Absent from gnomAD v4.1 (exomes)
Absent from gnomAD-Canada v1.0 (genomes)

Sources

gnomad_v2 ↗gnomad_v4 ↗gnomad_canada ↗

Not met · 7 · evaluated, threshold not reached

PS3 No functional data are available for this variant. The variant is absent from COSMIC, has no SpliceAI scores, and no literature reports were identified that directly test the functional impact of NM_002067.5:c.605+2_606del. Details ▾Hide ▴

Still missing

No functional studies identified for this variant

PM1 Although GNA11 contains critical functional domains including the GTPase domain, this splice site deletion is not situated within a well-established mutational hotspot as defined by ClinGen or VCEP domain-level criteria. The variant is absent from cancerhotspots.org, and no gene-specific PM1 domain has been defined for GNA11 under generic ACMG. Details ▾Hide ▴

Still missing

No gene-specific PM1 domain defined for GNA11

PP5 This variant is absent from ClinVar. No reputable source has reported this variant as pathogenic. Details ▾Hide ▴

Evidence considered

Absent from ClinVar

BA1 This variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases. The allele frequency is 0%, well below the BA1 threshold of >1%. Details ▾Hide ▴

Evidence considered

Absent from all population databases

Sources

gnomad_v2 ↗gnomad_v4 ↗gnomad_canada ↗

BS1 This variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases. The allele frequency is 0%, well below the BS1 threshold of >0.3%. Details ▾Hide ▴

Evidence considered

Absent from all population databases

Sources

gnomad_v2 ↗gnomad_v4 ↗gnomad_canada ↗

BS3 No well-established functional studies exist showing no deleterious effect for this variant. No functional data of any kind were identified. Details ▾Hide ▴

Still missing

No functional data available

BP6 This variant is absent from ClinVar. No reputable source has reported this variant as benign. Details ▾Hide ▴

Evidence considered

Absent from ClinVar

Not assessed · 9 · no assessment recorded

PS2 No de novo data are available for this variant. PS2 requires confirmed de novo occurrence with maternity and paternity confirmed. Details ▾Hide ▴

Still missing

No parental data available

PS4 No case-control or disease prevalence data are available for this variant. Details ▾Hide ▴

Still missing

No case-control or cohort data available

PM6 No de novo data are available for this variant. PM6 requires confirmed de novo observation. Details ▾Hide ▴

Still missing

No de novo data available

PP1 No co-segregation data are available for this variant. Details ▾Hide ▴

Still missing

No family or co-segregation data available

PP4 No proband phenotype or clinical data are available for this variant. Details ▾Hide ▴

Still missing

No proband phenotype data available

BS2 No data on observation of this variant in healthy adult individuals are available. Details ▾Hide ▴

Still missing

No data on healthy adult carriers

BS4 No co-segregation data are available to evaluate lack of segregation with disease. Details ▾Hide ▴

Still missing

No family or co-segregation data available

BP2 No data are available on observation of this variant in trans with a known pathogenic variant in a recessive disorder. Details ▾Hide ▴

Still missing

No trans phase data available

BP5 No data are available on an alternate molecular basis for disease in individuals carrying this variant. Details ▾Hide ▴

Still missing

No alternate molecular basis data available

Not applicable · 11· recorded as not applicable Show reasons ▾Hide reasons ▴

PS1 N/APS1 applies when a variant has the same amino acid change as a known pathogenic missense variant. This variant is a canonical splice site deletion and does not produce a defined amino acid substitution. Details ▾Hide ▴

No further detail was recorded.

PM3 N/ATrivially not applicable per instructions — skipped. Details ▾Hide ▴

No further detail was recorded.

PM4 N/APM4 applies to in-frame deletions/insertions in non-repeat regions or stop-loss variants. This is a canonical splice site deletion whose protein consequence cannot be determined (p.?) and does not fall into the defined in-frame protein-altering categories for PM4. Details ▾Hide ▴

No further detail was recorded.

PM5 N/APM5 requires a same-residue missense comparator. This variant is a canonical splice site deletion that cannot be resolved to a defined amino acid residue. Classic same-residue PM5 semantics cannot be confirmed. Details ▾Hide ▴

No further detail was recorded.

PP2 N/APP2 applies to genes where missense variants are a predominant disease mechanism and benign missense variation is rare. This is a canonical splice site deletion, not a missense variant. Details ▾Hide ▴

No further detail was recorded.

PP3 N/AIn silico prediction tools (REVEL, BayesDel, HCI prior) are not applicable to this variant type (not SNV). SpliceAI delta scores are unavailable. Furthermore, PP3 should not be double-counted for the same splice-effect evidence already captured by PVS1 under PMC6185798. Details ▾Hide ▴

No further detail was recorded.

BP1 N/ABP1 applies to missense variants in genes where only truncating variants cause disease. This is a canonical splice site deletion, not a missense variant. Details ▾Hide ▴

No further detail was recorded.

BP3 N/ABP3 applies to in-frame deletions/insertions in repetitive regions without known function. This is a canonical splice site deletion, not a defined in-frame protein alteration. Details ▾Hide ▴

No further detail was recorded.

BP4 N/AIn silico prediction tools (REVEL, BayesDel, HCI prior) are not applicable to this variant type. No computational evidence is available to support a benign interpretation. Details ▾Hide ▴

No further detail was recorded.

BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. This is a canonical splice site deletion, not a synonymous variant. Details ▾Hide ▴

No further detail was recorded.

PS5 N/APS5 applies to variants found in trans with a pathogenic variant in recessive disorders. GNA11-associated disorders follow dominant inheritance; this criterion is not applicable. Details ▾Hide ▴

No further detail was recorded.

Identifiers

Gene: GNA11
Transcript: NM_002067.5
Coding (HGVS c.): NM_002067.5:c.605+2_606del
Protein (HGVS p.): NP_002058.2:p.?
GRCh38: chr19:3115071 CGGTACCGCCCGGGCCACAGCAGGCGGGGAGGGGGCACTGAGAGGCTCATTTGCCCGGTGTGCCGGCTCATGCCTGCGCACCCAGTGCTTTGGGAGGCCAAGGCGGGAGGATCGCCTGAGTCCAGGAGTTTGAGACCACCCTGGGCAACATAGCCAGACCTCATATCTAAAAAAAATTTTAAAAATTAGCTGGGCGTGGTTGTGTGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTCAAGCCCAGGAGGTTGAGGCTGAAGTGAGCCATGATGGCACCACTGGACTCCAGCCTGGGCGACAGAGGGAGACCCTGTTTCGTCTTATTAAACAAAAGAAAGCCCATTGGTCTTCATCCTCAGTGTGTGTTTGACCAGGTCAGGGGATAAGATTTATCTCTAAGTATGTGTGAGCCAGGGCCACACAGGGAAGGAGCTGTGGGGGTGTGGGGGGCGTGGCCACATCCATCCAGACCGGCAGCCGAAGAGACCTGGCAGGGAGGACATTTGACAGGGCCTCCAGGACGGGCCGGGGGCCTGGTTGGAGCCAGCATGGGGCTGGGGTCTGGAGTGCTGGCCGGAGCAGGGGGTGCCGCATGGTGCGGGAGGGGTCATAGGGACTGAGGCTGCCAGGGGAGGGGGCTCATGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCATAGGGACCGAGGCTGTGAGGGGAGGGGGGGGGTCACGGGGACCGAGGCTGTGAGTGGAGGAGGGGTCATAGGGACTGAGTGGGGAGGAGGGGTCATAGGGACTGAGGCTGTGAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGTCAGGGAAGAGGGGTCATGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCGTGGGGACCGAGGCTTTGAGGGGAGGAGGGGTCATAGGGACTGAGTGGGGAGGAGGGCTCCAGGCTGGGGTGGAGGAGCTGGGTGGTGTGGGGTGGATTCTGTTCTTCACGGGCTGCCCCTGCGGATCCTGCTGGGCCTCCGGGGCTCCAGGTCCACTGTGGCTGGGGGCCGGCCAGCAGAGCCGGGTTCTCCCTGGGGACCCTCAGTGGGTCCTGTGTCTGGTAGGCTGCTCAGCTGGCTGGACTCTGCTGTCCCTGGGAACGTGGACCCTGCCTGCCTGTCTCCTGGCCCCATATAACATCTCCAGCGCTGAGGTCCCGGCTTTATGCGTGCCTGTCCTGGGCTGCTGGTGTCGGGCGTGAGACTCCCACCGCAGGCCTTATTCCCGCCCAGTGCTGGAGGCCAGAAGGCTGAGATGCAGGTGTGGGCCGGGCCAGGTCCTTCTGAGGCTGAGGGGATCTGCCCAGGCCTCACTCGGCTCCTAGTGGCGGCCGCATCCTTGGCATCCTTGGCATCCTTGGCATCCTTGGCTTGTGGCCGGGTTGCCTCATCCCTGCCCCCATCCTCATGCAGCGTCCTCCCCGCCTGCGCCTTTGCCTCTGTTCTCTTATAACCTGTCCTTGGCCAGGGCCACCCTACCTCTGTGTGACGTTATCCTAACCAGTGACATCCGCACAGACCCTGTTTCCAGATCAGAGCCGTCCCCGGGTTCTGGTGTTCGTGCGTGTGGGGCGCTAGACGGCTCTGTCCTGGAGGGCCTCGCGGTGGCTCCGGTTGCGGGTGCCTTCTCCTGCAGTGCAAGCTCGCCCTGGCACTGGCCCTCATGAGGGAATGACGCCTCCCTGCCAGGGTGTCCCCACCCAGCTGGTGCACTGCCGAGGCCATTGTGAGGGTTCCGGGAAGTCTGTGGGGTTTTCCTCGAGAGCCCTGCCTTGAGACCCACCCCAGGGCTGGGGGTGCCACCCCCTGCCATCTGCCTGTTCTCCCCACCCGTCCTCCCAGCTCGGCCTCCCAGCGCAGGCAGGGAGGATGCGGCGTGAAGATGGAGGCAGGGATGGAGCAATGTGGCCACAAGCCAAGGAATGCCAAGCTCTGGGATGGTTCCCGGGGACCCGAGCAGGCGCTGGGCCCTCAGAAGCTGCGGTGTCCTCTCTGGACATGGGCGATGGTGTATATTGTTACGAGAATTCAAGTTTTTCTTCTTTTTTATTCACACGGGGCCCATGACCCCAGGATACAGCTGAGGCGAGCCAGGCATAGGCCAGGTTGTGGCATGAATGTCCCCTCACAGCCCCACGCTGGCCTCTTAACAGCGCAGGCCTCTGTGTCCTCTGTCAGAAATGTCCTGTCCCCTCCCTGAGCTGAGCTCAGGCTGGGTGTGTCACCCCCTCTCCACCATCTTCCAGGCCCTTCCCAGCTCCAGCTGTGCCCTTTTCTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCTGTGCAATCTGGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTTAGTAGAGATGTGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGGCTGTGCCCTCTGTGCCGGGTGCAGACCCCCGTCCTGAGCCTACTCCTCTGCCACCATTGTTTCTCTGCCAGCCGCCTCTGTCCACCACACGCTGGCAGAGGGCCGGCCAGGTGCTGTGGGATGCAGCTGGAGGCCTTGAAGGCCGGTGGGATCGTCCCAGTGCGTGAGGAGAGGCTCCTGCTCCCTCAGGTGGGGACAAGACACGGGGGGACCCGGATCCCAGCCCTGCCGGCCGCCGCAGGCGTGCAGGAGAGGCCTCGCGCTCCAGACGGGCTGTGGCCTGGTGTCGGCACACCCACTGTCCTCCCGCCTGGCCACAGCTGCTGGTGCGGGCCCTCTTGTCCCTTAGAGTCACCTGGCACATCTGTCATCCACCGGTGCCTGCTGGACTCCCCCGCAGACCAGACCAGGTGGATTTCACCACTCACATGCCCAAAGCAGCCCCGCTCTCCTCGGCAGAGTTGCAGGGACCCCGGCCTTCCCTGGGGCCTGGGGCCAGGGCCTGAGGGGCACTCTCCGCTTCTGCCTTTGTATTCTTTCAAGGAGACCAAAGTGCCTTTTCTCGTTATAGAAAACTTAGAAAAGTCACAAGTAGAAAGAGGCAAACGTCCCGTAAGGAACGCACGCCCGCAGACATCGTCTGAGCTGATTTTCTTTCTCCCGCCTGTGCGTGGCCTGAGAGTGTGAGGTTGAGCTGCTCACCACGCGGGGCAGGGCGCTGCGCCTGCTCTTCTGCCCCAGGAGGATACCGGCAACTCTGCCCTCTGCAGCCGTCACTGGAGGGTCCCTGCAGGGAGCAACTGTGGCATCAGTGTTTACTCCTGCGAGTGACGCTTGGTGAACATCTGTGTCCCTGGCCCAGTGAGGGGAAAGGCTTCTGTGCTCAGGGTGACATCCAGATGCCAGATGTAGGGTCCCTGGGCACCCATCGCAGGTTCCCGCAGCAGCTGGCGCCCAGAATCCTCTGGGTTCTCACACCCCCACACTAGCGCCCGCTTCCCTGGGCCCAGTGGTCTCAGGCCCCTTTGCCAGTGAGGGAAGGGTCTGCGGTGGTCACCCCTGGAGGCGGTGCGGCCGCTCTCTGAGAGCGTCCTTGCCCGTTCTAAGAGTGGGGGCTCTTCCTGCTCCAGCCGATGTCAGTCTGGTGTGGCAGGAGGGGCTTGGGTGGGAGCCGTCCTGGGATTGCAGATTGGGCCTTGGGGCGCCAGGTGGCTGAGTCCTGGCGCTGTGTCCTTTCA>C
GRCh37: chr19:3115069 CGGTACCGCCCGGGCCACAGCAGGCGGGGAGGGGGCACTGAGAGGCTCATTTGCCCGGTGTGCCGGCTCATGCCTGCGCACCCAGTGCTTTGGGAGGCCAAGGCGGGAGGATCGCCTGAGTCCAGGAGTTTGAGACCACCCTGGGCAACATAGCCAGACCTCATATCTAAAAAAAATTTTAAAAATTAGCTGGGCGTGGTTGTGTGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTCAAGCCCAGGAGGTTGAGGCTGAAGTGAGCCATGATGGCACCACTGGACTCCAGCCTGGGCGACAGAGGGAGACCCTGTTTCGTCTTATTAAACAAAAGAAAGCCCATTGGTCTTCATCCTCAGTGTGTGTTTGACCAGGTCAGGGGATAAGATTTATCTCTAAGTATGTGTGAGCCAGGGCCACACAGGGAAGGAGCTGTGGGGGTGTGGGGGGCGTGGCCACATCCATCCAGACCGGCAGCCGAAGAGACCTGGCAGGGAGGACATTTGACAGGGCCTCCAGGACGGGCCGGGGGCCTGGTTGGAGCCAGCATGGGGCTGGGGTCTGGAGTGCTGGCCGGAGCAGGGGGTGCCGCATGGTGCGGGAGGGGTCATAGGGACTGAGGCTGCCAGGGGAGGGGGCTCATGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCATAGGGACCGAGGCTGTGAGGGGAGGGGGGGGGTCACGGGGACCGAGGCTGTGAGTGGAGGAGGGGTCATAGGGACTGAGTGGGGAGGAGGGGTCATAGGGACTGAGGCTGTGAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGTCAGGGAAGAGGGGTCATGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCGTGGGGACCGAGGCTTTGAGGGGAGGAGGGGTCATAGGGACTGAGTGGGGAGGAGGGCTCCAGGCTGGGGTGGAGGAGCTGGGTGGTGTGGGGTGGATTCTGTTCTTCACGGGCTGCCCCTGCGGATCCTGCTGGGCCTCCGGGGCTCCAGGTCCACTGTGGCTGGGGGCCGGCCAGCAGAGCCGGGTTCTCCCTGGGGACCCTCAGTGGGTCCTGTGTCTGGTAGGCTGCTCAGCTGGCTGGACTCTGCTGTCCCTGGGAACGTGGACCCTGCCTGCCTGTCTCCTGGCCCCATATAACATCTCCAGCGCTGAGGTCCCGGCTTTATGCGTGCCTGTCCTGGGCTGCTGGTGTCGGGCGTGAGACTCCCACCGCAGGCCTTATTCCCGCCCAGTGCTGGAGGCCAGAAGGCTGAGATGCAGGTGTGGGCCGGGCCAGGTCCTTCTGAGGCTGAGGGGATCTGCCCAGGCCTCACTCGGCTCCTAGTGGCGGCCGCATCCTTGGCATCCTTGGCATCCTTGGCATCCTTGGCTTGTGGCCGGGTTGCCTCATCCCTGCCCCCATCCTCATGCAGCGTCCTCCCCGCCTGCGCCTTTGCCTCTGTTCTCTTATAACCTGTCCTTGGCCAGGGCCACCCTACCTCTGTGTGACGTTATCCTAACCAGTGACATCCGCACAGACCCTGTTTCCAGATCAGAGCCGTCCCCGGGTTCTGGTGTTCGTGCGTGTGGGGCGCTAGACGGCTCTGTCCTGGAGGGCCTCGCGGTGGCTCCGGTTGCGGGTGCCTTCTCCTGCAGTGCAAGCTCGCCCTGGCACTGGCCCTCATGAGGGAATGACGCCTCCCTGCCAGGGTGTCCCCACCCAGCTGGTGCACTGCCGAGGCCATTGTGAGGGTTCCGGGAAGTCTGTGGGGTTTTCCTCGAGAGCCCTGCCTTGAGACCCACCCCAGGGCTGGGGGTGCCACCCCCTGCCATCTGCCTGTTCTCCCCACCCGTCCTCCCAGCTCGGCCTCCCAGCGCAGGCAGGGAGGATGCGGCGTGAAGATGGAGGCAGGGATGGAGCAATGTGGCCACAAGCCAAGGAATGCCAAGCTCTGGGATGGTTCCCGGGGACCCGAGCAGGCGCTGGGCCCTCAGAAGCTGCGGTGTCCTCTCTGGACATGGGCGATGGTGTATATTGTTACGAGAATTCAAGTTTTTCTTCTTTTTTATTCACACGGGGCCCATGACCCCAGGATACAGCTGAGGCGAGCCAGGCATAGGCCAGGTTGTGGCATGAATGTCCCCTCACAGCCCCACGCTGGCCTCTTAACAGCGCAGGCCTCTGTGTCCTCTGTCAGAAATGTCCTGTCCCCTCCCTGAGCTGAGCTCAGGCTGGGTGTGTCACCCCCTCTCCACCATCTTCCAGGCCCTTCCCAGCTCCAGCTGTGCCCTTTTCTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCTGTGCAATCTGGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTTAGTAGAGATGTGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGGCTGTGCCCTCTGTGCCGGGTGCAGACCCCCGTCCTGAGCCTACTCCTCTGCCACCATTGTTTCTCTGCCAGCCGCCTCTGTCCACCACACGCTGGCAGAGGGCCGGCCAGGTGCTGTGGGATGCAGCTGGAGGCCTTGAAGGCCGGTGGGATCGTCCCAGTGCGTGAGGAGAGGCTCCTGCTCCCTCAGGTGGGGACAAGACACGGGGGGACCCGGATCCCAGCCCTGCCGGCCGCCGCAGGCGTGCAGGAGAGGCCTCGCGCTCCAGACGGGCTGTGGCCTGGTGTCGGCACACCCACTGTCCTCCCGCCTGGCCACAGCTGCTGGTGCGGGCCCTCTTGTCCCTTAGAGTCACCTGGCACATCTGTCATCCACCGGTGCCTGCTGGACTCCCCCGCAGACCAGACCAGGTGGATTTCACCACTCACATGCCCAAAGCAGCCCCGCTCTCCTCGGCAGAGTTGCAGGGACCCCGGCCTTCCCTGGGGCCTGGGGCCAGGGCCTGAGGGGCACTCTCCGCTTCTGCCTTTGTATTCTTTCAAGGAGACCAAAGTGCCTTTTCTCGTTATAGAAAACTTAGAAAAGTCACAAGTAGAAAGAGGCAAACGTCCCGTAAGGAACGCACGCCCGCAGACATCGTCTGAGCTGATTTTCTTTCTCCCGCCTGTGCGTGGCCTGAGAGTGTGAGGTTGAGCTGCTCACCACGCGGGGCAGGGCGCTGCGCCTGCTCTTCTGCCCCAGGAGGATACCGGCAACTCTGCCCTCTGCAGCCGTCACTGGAGGGTCCCTGCAGGGAGCAACTGTGGCATCAGTGTTTACTCCTGCGAGTGACGCTTGGTGAACATCTGTGTCCCTGGCCCAGTGAGGGGAAAGGCTTCTGTGCTCAGGGTGACATCCAGATGCCAGATGTAGGGTCCCTGGGCACCCATCGCAGGTTCCCGCAGCAGCTGGCGCCCAGAATCCTCTGGGTTCTCACACCCCCACACTAGCGCCCGCTTCCCTGGGCCCAGTGGTCTCAGGCCCCTTTGCCAGTGAGGGAAGGGTCTGCGGTGGTCACCCCTGGAGGCGGTGCGGCCGCTCTCTGAGAGCGTCCTTGCCCGTTCTAAGAGTGGGGGCTCTTCCTGCTCCAGCCGATGTCAGTCTGGTGTGGCAGGAGGGGCTTGGGTGGGAGCCGTCCTGGGATTGCAGATTGGGCCTTGGGGCGCCAGGTGGCTGAGTCCTGGCGCTGTGTCCTTTCA>C

Gene diagram

Every interpreted variant in GNA11, mapped onto the exon structure of NM_002067.5. Select a row to find it on the plot.

GNA11NM_002067.5

Fetching transcript structure from UCSC…

Exons

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Transcript span

—

Strand

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Variants mapped

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Source

UCSC ncbiRefSeqCurated

All variants in GNA11 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 Allele count data not recorded

gnomAD v2.1 Allele count data not recorded

gnomAD-Canada v1.0 Allele count data not recorded

Statements

gnomAD v4.1

Absent from gnomAD v4.1.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

Other predictors

REVEL: Not available
BayesDel: Not available

How the predictions were used

No further detail was recorded.

BP4 N/AIn silico prediction tools (REVEL, BayesDel, HCI prior) are not applicable to this variant type. No computational evidence is available to support a benign interpretation. Details ▾Hide ▴

No further detail was recorded.

BP7 N/ABP7 applies to synonymous variants with no predicted splice impact. This is a canonical splice site deletion, not a synonymous variant. Details ▾Hide ▴

No further detail was recorded.

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

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

gnomAD v4.1 Captured gnomAD v4.1 source record Open source ↗

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

SpliceAI Lookup Captured SpliceAI source record Open source ↗

ClinVar Captured ClinVar source record Open source ↗

COSMIC Captured COSMIC 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

Absent from gnomAD v4.1.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

ClinVar

This variant is absent from ClinVar.

Somatic

This variant has not previously been reported in somatic cancers (COSMIC).