NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) AND not specified

Clinical significance:Uncertain significance (Last evaluated: May 28, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000215204.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)]

NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)
HGVS:
  • NC_000007.14:g.107700146G>A
  • NG_008489.1:g.44512G>A
  • NM_000441.2:c.1678G>AMANE SELECT
  • NP_000432.1:p.Asp560Asn
  • NC_000007.13:g.107340591G>A
  • NM_000441.1:c.1678G>A
Protein change:
D560N
Links:
dbSNP: rs759360026
NCBI 1000 Genomes Browser:
rs759360026
Molecular consequence:
  • NM_000441.2:c.1678G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000272437Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(May 28, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P.

PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21.

PubMed [citation]
PMID:
23185506
PMCID:
PMC3503781

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, Partners HealthCare Personalized Medicine, SCV000272437.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Asp560Asn variant in SLC26A4 has been reported in 1 Chinese individual wit h nonsyndromic hearing loss (Yuan 2012). However, information was not provided r egarding if this individual had a second SLC26A4 variant or temporal bone abnorm alities consistent with SLC26A4-related hearing loss. This variant was also iden tified in 3/120123 chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org). Although this variant has been seen in the general po pulation, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that the Asp560Asn variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the Asp560Asn variant is uncertain.

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

Last Updated: Jul 7, 2021

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