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NM_000441.2(SLC26A4):c.1947C>T (p.Asn649=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 4, 2020
Accession:
VCV000227951.5
Variation ID:
227951
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.1947C>T (p.Asn649=)

Allele ID
229542
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107701970 (GRCh38) GRCh38 UCSC
7: 107342415 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107342415C>T
NC_000007.14:g.107701970C>T
NM_000441.2:c.1947C>T MANE Select NP_000432.1:p.Asn649= synonymous
NG_008489.1:g.46336C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:107701969:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00012
The Genome Aggregation Database (gnomAD), exomes 0.00009
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA4432988
dbSNP: rs761139326
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 19, 2016 RCV000219440.1
Likely benign 1 criteria provided, single submitter Oct 4, 2020 RCV000928105.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
749 825

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 19, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270851.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Asn649Asn in exon 17 of SLC26A4: This variant is not expected to have clinical significance because it does not alter an amino acid residue and … (more)
Likely benign
(Oct 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001073709.3
Submitted: (Jan 07, 2021)
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 rs761139326...

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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 Jul 07, 2021