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NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000155702.7

Allele description [Variation Report for NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)]

NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
HGVS:
  • NC_000006.12:g.33172356G>A
  • NG_011589.1:g.25113C>T
  • NM_080679.3:c.2600C>T
  • NM_080680.3:c.2921C>TMANE SELECT
  • NM_080681.3:c.2663C>T
  • NP_542410.2:p.Ala867Val
  • NP_542411.2:p.Ala974Val
  • NP_542411.2:p.Ala974Val
  • NP_542412.2:p.Ala888Val
  • NC_000006.11:g.33140133G>A
  • NM_080680.2:c.2921C>T
Protein change:
A867V
Links:
dbSNP: rs376797260
NCBI 1000 Genomes Browser:
rs376797260
Molecular consequence:
  • NM_080679.3:c.2600C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080680.3:c.2921C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.2663C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000205412Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 21, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided54not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205412.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testing PubMed (1)

Description

The p.Ala974Val variant in COL11A2 has been previously reported by our laborator y in 2 individuals with hearing loss, 1 of whom had an alternate etiology. The v ariant is also present in ClinVar (Variation ID# 178927) and was identified in 0 .02% (21/99192) of European chromosomes by gnomAD (http://gnomad.broadinstitute. org). Although this variant has been seen in the general population, its frequen cy is not high enough to rule out a pathogenic role. Computational prediction to ols and conservation analyses suggest that this variant may not impact the prote in, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ala974Val variant is uncertain. ACMG/AMP Criteria applied: BP4.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided5not provided4not provided

Last Updated: Jan 13, 2025