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NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu) AND Pendred syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 12, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001265206.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu)]

NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu)

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.1087A>C (p.Ile363Leu)
HGVS:
  • NC_000007.14:g.107689138A>C
  • NG_008489.1:g.33504A>C
  • NM_000441.2:c.1087A>CMANE SELECT
  • NP_000432.1:p.Ile363Leu
  • NC_000007.13:g.107329583A>C
Protein change:
I363L
Links:
dbSNP: rs141158498
NCBI 1000 Genomes Browser:
rs141158498
Molecular consequence:
  • NM_000441.2:c.1087A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Pendred syndrome (PDS)
Synonyms:
DEAFNESS WITH GOITER; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001438730The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine
no assertion criteria provided
Pathogenic
(May 12, 2020) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes2not providednot provided2not providedclinical testing

Details of each submission

From The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, SCV001438730.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not providednot provided1not providednot providednot provided
2inheritedyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 17, 2022