NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001001616.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val)]

NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val)

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.886A>G (p.Ile296Val)
HGVS:
  • NC_000007.14:g.107683322A>G
  • NG_008489.1:g.27688A>G
  • NM_000441.2:c.886A>GMANE SELECT
  • NP_000432.1:p.Ile296Val
  • NC_000007.13:g.107323767A>G
Protein change:
I296V
Links:
dbSNP: rs761613436
NCBI 1000 Genomes Browser:
rs761613436
Molecular consequence:
  • NM_000441.2:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001159067ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Dec 19, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001159067.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SLC26A4 c.886A>G; p.Ile296Val variant (rs761613436), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on a single chromosome in the Genome Aggregation Database, indicating it is not a common polymorphism. The isoleucine at codon 296 is moderately conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ile296Val variant is uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2020

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