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NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000773367.5
Variation ID:
773367
Description:
single nucleotide variant
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NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser)

Allele ID
705432
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20p13
Genomic location
20: 3234205 (GRCh38) GRCh38 UCSC
20: 3214851 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.3214851T>C
NM_001174090.1:c.530A>G NP_001167561.1:p.Asn177Ser missense
NM_032034.3:c.449A>G NP_114423.1:p.Asn150Ser missense
... more HGVS
Protein change
N134S, N177S, N150S
Other names
-
Canonical SPDI
NC_000020.11:3234204:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01198 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00308
Exome Aggregation Consortium (ExAC) 0.00393
Trans-Omics for Precision Medicine (TOPMed) 0.01340
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01453
The Genome Aggregation Database (gnomAD) 0.01250
1000 Genomes Project 0.01198
Links
dbSNP: rs34520315
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000953103.3
Benign 1 criteria provided, single submitter Jul 9, 2020 RCV001287971.1
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001275547.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC4A11 - - GRCh38
GRCh37
434 474

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 09, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001474744.1
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001099653.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Harboyan syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001460787.1
Submitted: (Dec 28, 2020)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs34520315...

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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 Oct 24, 2021