NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser) AND Pendred syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001278041.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser)]

NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser)

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.187G>A (p.Gly63Ser)
HGVS:
  • NC_000007.14:g.107663318G>A
  • NG_008489.1:g.7684G>A
  • NM_000441.2:c.187G>AMANE SELECT
  • NP_000432.1:p.Gly63Ser
  • NC_000007.13:g.107303763G>A
Protein change:
G63S
Molecular consequence:
  • NM_000441.2:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV001465033Natera, Inc.no assertion criteria providedUncertain significance
(Aug 14, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001465033.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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