NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) AND Rare genetic deafness

Clinical significance:Likely pathogenic (Last evaluated: May 2, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000603987.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)]

NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)

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.1231G>C (p.Ala411Pro)
HGVS:
  • NC_000007.14:g.107690205G>C
  • NG_008489.1:g.34571G>C
  • NM_000441.2:c.1231G>CMANE SELECT
  • NP_000432.1:p.Ala411Pro
  • NC_000007.13:g.107330650G>C
  • NM_000441.1:c.1231G>C
Protein change:
A411P
Links:
dbSNP: rs1293971731
NCBI 1000 Genomes Browser:
rs1293971731
Molecular consequence:
  • NM_000441.2:c.1231G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000710861Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(May 2, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided31not providednot providednot providedclinical testing

Citations

PubMed

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P.

Eur J Endocrinol. 2001 Jun;144(6):585-93.

PubMed [citation]
PMID:
11375792

Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct.

Courtmans I, Mancilla V, Ligny C, Hilbert P, Mansbach AL, Van Maldergem L.

J Laryngol Otol. 2007 Apr;121(4):312-7. Epub 2006 Nov 24.

PubMed [citation]
PMID:
17125574
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000710861.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (3)

Description

The p.Ala411Pro variant in SLC26A4 has been reported in the compound heterozygou s state in two Latino siblings with Pendred syndrome (Trevino 2001). It has not been identified in large population studies. In addition, a different amino acid change at this position (p.Ala411Thr) has been reported in individuals with Pen dred syndrome (Courtmans 2007) further suggesting that a change at this location may not be tolerated. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional s tudies are required to fully establish its clinical significance, the p.Ala411Pr o variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided1not provided

Last Updated: Jul 7, 2021

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