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NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2017
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:
RCV000609836.4

Allele description [Variation Report for NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)]

NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
HGVS:
  • NC_000001.11:g.215782908T>C
  • NG_009497.2:g.645541A>G
  • NM_206933.4:c.10415A>GMANE SELECT
  • NP_996816.3:p.Tyr3472Cys
  • NC_000001.10:g.215956250T>C
  • NG_009497.1:g.645489A>G
  • NM_206933.2:c.10415A>G
Protein change:
Y3472C
Links:
dbSNP: rs1553261469
NCBI 1000 Genomes Browser:
rs1553261469
Molecular consequence:
  • NM_206933.4:c.10415A>G - 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
SCV000731628Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jul 27, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not 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, SCV000731628.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The p.Tyr3472Cy s variant in USH2A has been reported by our laboratory in one individual with he aring loss, who has another variant of uncertain significance on the same copy a nd a pathogenic variant on the other copy of the USH2A gene. The p.Tyr3472Cys va riant has not been identified in large population studies. Computational predict ion tools and conservation analyses suggest that this variant may impact the pro tein, and splice prediction tools suggest the possible creation of a 5' cryptic splice site; however, this information is not predictive enough to determine pat hogenicity. In summary, while there is some suspicion of a pathogenic role, the clinical significance of the p.Tyr3472Cys variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Dec 30, 2023