NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jul 25, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036482.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)]

NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)

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.2291C>T (p.Thr764Met)
Other names:
NM_000441.1(SLC26A4):c.2291C>T(p.Thr764Met); NM_000441.1(SLC26A4):c.2291C>T
HGVS:
  • NC_000007.14:g.107712594C>T
  • NG_008489.1:g.56960C>T
  • NM_000441.2:c.2291C>TMANE SELECT
  • NP_000432.1:p.Thr764Met
  • NC_000007.13:g.107353039C>T
  • NM_000441.1:c.2291C>T
  • c.2291C>T
Protein change:
T764M
Links:
dbSNP: rs150597240
NCBI 1000 Genomes Browser:
rs150597240
Molecular consequence:
  • NM_000441.2:c.2291C>T - 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
SCV000060137Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jul 25, 2012)
germlineclinical testing

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

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, Partners HealthCare Personalized Medicine, SCV000060137.6

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

Description

Variant classified as Uncertain Significance - Favor Benign. The Thr764Met varia nt in SLC26A4 has not been reported in the literature nor previously identified by our laboratory. It has been identified in 0.01% (1/8600) of European America n chromosomes and 0.07% (3/4406) of African American chromosomes from a broad po pulation by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS /; dbSNP rs150597240), but this frequency is not high enough to rule out a patho genic role. Computational analyses (biochemical amino acid properties, conservat ion, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of this varian t cannot be determined without additional data.

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

Last Updated: Aug 27, 2021

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