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NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2015
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:
RCV000219472.4

Allele description [Variation Report for NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)]

NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
HGVS:
  • NC_000001.11:g.216199789C>T
  • NG_009497.2:g.228660G>A
  • NM_007123.5:c.3649G>A
  • NM_007123.6:c.3649G>A
  • NM_206933.4:c.3649G>AMANE SELECT
  • NP_009054.6:p.Asp1217Asn
  • NP_996816.3:p.Asp1217Asn
  • NC_000001.10:g.216373131C>T
  • NC_000001.9:g.214439754C>T
  • NG_009497.1:g.228608G>A
  • NM_206933.2:c.3649G>A
  • NM_206933.4:c.3649G>A
Protein change:
D1217N
Links:
dbSNP: rs202247801
NCBI 1000 Genomes Browser:
rs202247801
Molecular consequence:
  • NM_007123.6:c.3649G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3649G>A - 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
SCV000272896Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 3, 2015) 		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, SCV000272896.3

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

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Asp1217Asn va riant in USH2A has not been previously reported in individuals with hearing loss , but has been identified in 1/66726 European chromosomes and 1/16512 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs202247801). The aspartic acid (Asp) at position 1217 is not con served through species, with 2 mammals (gibbon and platypus) having an asparagin e (Asn) at this position. Additional computational prediction tools suggest that this variant may not impact the protein, though this information is not predict ive enough to rule out pathogenicity. In summary, while the clinical significanc e of the p.Asp1217Asn variant is uncertain, the lack of evolutionary conservatio n suggests that it is more likely to be benign.

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

Last Updated: Sep 29, 2024