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NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2016
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:
RCV000602277.5

Allele description [Variation Report for NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)]

NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)

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.2182A>T (p.Ile728Phe)
HGVS:
  • NC_000006.12:g.33176291T>A
  • NG_011589.1:g.21178A>T
  • NM_080679.3:c.1861A>T
  • NM_080680.3:c.2182A>TMANE SELECT
  • NM_080681.3:c.1924A>T
  • NP_542410.2:p.Ile621Phe
  • NP_542411.2:p.Ile728Phe
  • NP_542411.2:p.Ile728Phe
  • NP_542412.2:p.Ile642Phe
  • NC_000006.11:g.33144068T>A
  • NM_080680.2:c.2182A>T
Protein change:
I621F
Links:
dbSNP: rs188490457
NCBI 1000 Genomes Browser:
rs188490457
Molecular consequence:
  • NM_080679.3:c.1861A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080680.3:c.2182A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.1924A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000711370Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Dec 22, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000711370.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Ile728Phe variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 0.14% (10/7366) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs188490457). Although this variant has been seen in the general populat ion, its frequency is not high enough to rule out a pathogenic role. Computation al prediction tools and conservation analysis suggest that the p.Ile728Phe varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Ile728Phe variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Mar 10, 2024