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

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764681.1

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]

Condition(s)

Name:
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (DFNB4)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791
Name:
Pendred syndrome (PDS)
Synonyms:
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000895812Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000895812.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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