NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) AND Autosomal dominant distal renal tubular acidosis

Clinical significance:Benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001127475.1

Allele description [Variation Report for NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)]

NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)

Gene:
SLC4A1:solute carrier family 4 member 1 (Diego blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
HGVS:
  • NC_000017.11:g.44254616C>T
  • NG_007498.1:g.18519G>A
  • NM_000342.4:c.1937G>AMANE SELECT
  • NP_000333.1:p.Arg646Gln
  • LRG_803t1:c.1937G>A
  • LRG_803:g.18519G>A
  • LRG_803p1:p.Arg646Gln
  • NC_000017.10:g.42331984C>T
  • NM_000342.3:c.1937G>A
  • P02730:p.Arg646Gln
Protein change:
R646Q; ARG646GLN
Links:
UniProtKB: P02730#VAR_013800; OMIM: 109270.0030; dbSNP: rs121912757
NCBI 1000 Genomes Browser:
rs121912757
Molecular consequence:
  • NM_000342.4:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant distal renal tubular acidosis (DRTA1)
Synonyms:
RTA, classic type; RTA, gradient type; Renal tubular acidosis 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008368; MedGen: CN280572; OMIM: 179800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001286790Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
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 Illumina Clinical Services Laboratory,Illumina, SCV001286790.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Jun 14, 2021

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