NM_000441.2(SLC26A4):c.2070G>A (p.Val690=) AND Pendred syndrome

Clinical significance:Uncertain significance (Last evaluated: Jan 24, 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:
RCV001277152.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2070G>A (p.Val690=)]

NM_000441.2(SLC26A4):c.2070G>A (p.Val690=)

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.2070G>A (p.Val690=)
HGVS:
  • NC_000007.14:g.107704366G>A
  • NG_008489.1:g.48732G>A
  • NM_000441.2:c.2070G>AMANE SELECT
  • NP_000432.1:p.Val690=
  • NC_000007.13:g.107344811G>A
  • NM_000441.1:c.2070G>A
Links:
dbSNP: rs374686650
NCBI 1000 Genomes Browser:
rs374686650
Molecular consequence:
  • NM_000441.2:c.2070G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001463981Natera, Inc.no assertion criteria providedUncertain significance
(Jan 24, 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., SCV001463981.1

#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

Support Center