NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 6, 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:: RCV002506729.1

Allele description [Variation Report for NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)]

NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)

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.2716G>T (p.Glu906Ter)

HGVS:

NC_000017.11:g.44250478C>A
NG_007498.1:g.22657G>T
NM_000342.4:c.2716G>TMANE SELECT
NP_000333.1:p.Glu906Ter
LRG_803t1:c.2716G>T
LRG_803:g.22657G>T
LRG_803p1:p.Glu906Ter
NC_000017.10:g.42327846C>A

Protein change:

E906*

Links:

dbSNP: rs199694087

NCBI 1000 Genomes Browser:

rs199694087

Molecular consequence:

NM_000342.4:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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putative pre-16S rRNA nuclease [Bifidobacteriaceae bacterium MCC02035]
putative pre-16S rRNA nuclease [Bifidobacteriaceae bacterium MCC02035]
gi|2024946923|dbj|GDZ52230.1||gnl|W JG|GDZ52230

Protein
xanthine dehydrogenase, partial [Casasia clusiifolia]
xanthine dehydrogenase, partial [Casasia clusiifolia]
gi|730129839|gb|AIZ11151.1|

Protein
cytochrome oxidase subunit 1, partial (mitochondrion) [Telenomus sp. BOLD:ACC784...
cytochrome oxidase subunit 1, partial (mitochondrion) [Telenomus sp. BOLD:ACC7846]
gi|998447517|gb|AMK43715.1|

Protein
Linepithema oblongum cytochrome oxidase subunit I gene, partial cds; tRNA-Leu ge...
Linepithema oblongum cytochrome oxidase subunit I gene, partial cds; tRNA-Leu gene, complete sequence; and cytochrome oxidase subunit II gene, partial cds; mitochondrial.
PopSet: 220683808

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002811005	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 6, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002811005

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 6, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV002811005.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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