U.S. flag

An official website of the United States government

NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) AND Hemolytic anemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001126941.4

Allele description [Variation Report for NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)]

NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)

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.2603C>T (p.Pro868Leu)
Other names:
P878L
HGVS:
  • NC_000017.11:g.44251211G>A
  • NG_007498.1:g.21924C>T
  • NM_000342.4:c.2603C>TMANE SELECT
  • NP_000333.1:p.Pro868Leu
  • LRG_803t1:c.2603C>T
  • LRG_803:g.21924C>T
  • LRG_803p1:p.Pro868Leu
  • NC_000017.10:g.42328579G>A
  • NM_000342.3:c.2603C>T
  • P02730:p.Pro868Leu
Protein change:
P868L; PRO878LEU
Links:
UniProtKB: P02730#VAR_013815; OMIM: 109270.0032; dbSNP: rs121912759
NCBI 1000 Genomes Browser:
rs121912759
Molecular consequence:
  • NM_000342.4:c.2603C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hemolytic anemia
Identifiers:
MONDO: MONDO:0003664; MedGen: C0002878; Human Phenotype Ontology: HP:0001878

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001286201Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868-->Leu in the membrane domain of band 3.

Bruce LJ, Kay MM, Lawrence C, Tanner MJ.

Biochem J. 1993 Jul 15;293 ( Pt 2):317-20.

PubMed [citation]
PMID:
8343110
PMCID:
PMC1134360

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001286201.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Mar 30, 2024