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NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 5, 2022
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:
RCV002502252.1

Allele description [Variation Report for NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)]

NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)

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.216G>T (p.Glu72Asp)
HGVS:
  • NC_000017.11:g.44260768C>A
  • NG_007498.1:g.12367G>T
  • NM_000342.4:c.216G>TMANE SELECT
  • NP_000333.1:p.Glu72Asp
  • LRG_803t1:c.216G>T
  • LRG_803:g.12367G>T
  • LRG_803p1:p.Glu72Asp
  • NC_000017.10:g.42338136C>A
  • NM_000342.3:c.216G>T
  • P02730:p.Glu72Asp
Protein change:
E72D
Links:
UniProtKB: P02730#VAR_058036; dbSNP: rs13306788
NCBI 1000 Genomes Browser:
rs13306788
Molecular consequence:
  • NM_000342.4:c.216G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BLOOD GROUP--SWANN SYSTEM (SW)
Synonyms:
SWANN BLOOD GROUP
Identifiers:
MedGen: C1832169; OMIM: 601550
Name:
BLOOD GROUP--WALDNER TYPE (WD)
Synonyms:
WALDNER BLOOD GROUP ANTIGEN
Identifiers:
MedGen: C1862191; OMIM: 112010
Name:
BLOOD GROUP--FROESE (FR)
Synonyms:
FROESE BLOOD GROUP ANTIGEN
Identifiers:
MedGen: C1832168; OMIM: 601551
Name:
BLOOD GROUP--WRIGHT ANTIGEN (WR)
Identifiers:
MedGen: C1862190; OMIM: 112050
Name:
Southeast Asian ovalocytosis
Synonyms:
HE, STOMATOCYTIC; Stomatocytic elliptocytosis, hereditary; Ovalocytosis, Malaysian-Melanesian-Filipino type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008165; MedGen: C1862322; Orphanet: 98868; OMIM: 166900
Name:
Hereditary spherocytosis type 4
Synonyms:
Spherocytosis type 4; SLC4A1-Related Spherocytosis
Identifiers:
MONDO: MONDO:0012981; MedGen: C2675212; Orphanet: 822; OMIM: 612653
Name:
BLOOD GROUP--DIEGO SYSTEM (DI)
Synonyms:
BLOOD GROUP, DIEGO SYSTEM
Identifiers:
MedGen: C1292286; OMIM: 110500
Name:
Cryohydrocytosis
Synonyms:
Pseudohyperkalemia Cardiff; Stomatocytosis, cold-sensitive; CRYOHYDROCYTOSIS DUE TO BAND 3 HEMEL; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008494; MedGen: C1861453; Orphanet: 398088; OMIM: 185020
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
Name:
Renal tubular acidosis, distal, 4, with hemolytic anemia
Synonyms:
Renal tubular acidosis, distal, with hemolytic anemia
Identifiers:
MONDO: MONDO:0012700; MedGen: C5436235; Orphanet: 93610; OMIM: 611590
Name:
Malaria, susceptibility to
Identifiers:
MONDO: MONDO:0021024; MedGen: C1970028; Orphanet: 673; OMIM: 611162

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002811860Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Apr 5, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002811860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024