NM_000441.2(SLC26A4):c.416-1G>A AND Pendred syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2020)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000410577.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.416-1G>A]

NM_000441.2(SLC26A4):c.416-1G>A

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.416-1G>A
HGVS:
  • NC_000007.14:g.107674163G>A
  • NG_008489.1:g.18529G>A
  • NM_000441.2:c.416-1G>AMANE SELECT
  • NC_000007.13:g.107314608G>A
  • NM_000441.1:c.416-1G>A
Links:
dbSNP: rs1057516988
NCBI 1000 Genomes Browser:
rs1057516988
Molecular consequence:
  • NM_000441.2:c.416-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000486551Counsylno assertion criteria providedPathogenic
(Jun 22, 2016)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001455797Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Miyagawa M, Nishio SY, Usami S; Deafness Gene Study Consortium..

J Hum Genet. 2014 May;59(5):262-8. doi: 10.1038/jhg.2014.12. Epub 2014 Mar 6.

PubMed [citation]
PMID:
24599119
PMCID:
PMC4521295

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.

Pang X, Chai Y, Chen P, He L, Wang X, Wu H, Yang T.

Int J Pediatr Otorhinolaryngol. 2015 Aug;79(8):1351-3. doi: 10.1016/j.ijporl.2015.06.009. Epub 2015 Jun 11.

PubMed [citation]
PMID:
26100058
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000486551.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001455797.1

#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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