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

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: May 26, 2021)
Last evaluated:
Dec 12, 2019
Accession:
VCV000017782.4
Variation ID:
17782
Description:
single nucleotide variant
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NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)

Allele ID
32821
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 44254616 (GRCh38) GRCh38 UCSC
17: 42331984 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.44254616C>T
NC_000017.10:g.42331984C>T
NM_000342.4:c.1937G>A MANE Select NP_000333.1:p.Arg646Gln missense
... more HGVS
Protein change
R646Q
Other names
-
Canonical SPDI
NC_000017.11:44254615:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD) 0.00006
Links
UniProtKB: P02730#VAR_013800
OMIM: 109270.0030
dbSNP: rs121912757
ClinGen: CA127408
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 23, 2019 RCV001001070.1
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001127475.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001127476.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001127477.1
Uncertain significance 1 criteria provided, single submitter Dec 12, 2019 RCV001507896.1
SWANN BLOOD GROUP ANTIGEN
Pathogenic 1 no assertion criteria provided Jan 1, 2000 RCV000019360.28
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC4A1 - - GRCh38
GRCh37
285 297

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 23, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001158200.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant distal renal tubular acidosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001286790.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
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, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Spherocytosis type 4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001286791.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
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, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hemolytic anemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001286792.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
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, … (more)
Uncertain significance
(Dec 12, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713729.1
Submitted: (May 26, 2021)
Evidence details
Pathogenic
(Jan 01, 2000)
no assertion criteria provided
Method: literature only
SWANN BLOOD GROUP ANTIGEN
Allele origin: germline
OMIM
Accession: SCV000039650.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Distinctive Swann blood group genotypes: molecular investigations. Zelinski T Vox sanguinis 2000 PMID: 11155072

Text-mined citations for rs121912757...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021