Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000441.2(SLC26A4):c.2007C>T (p.Asp669=)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Aug 30, 2018
Accession:
VCV000227952.3
Variation ID:
227952
Description:
single nucleotide variant
Help

NM_000441.2(SLC26A4):c.2007C>T (p.Asp669=)

Allele ID
229544
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107702030 (GRCh38) GRCh38 UCSC
7: 107342475 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107342475C>T
NC_000007.14:g.107702030C>T
NM_000441.2:c.2007C>T MANE Select NP_000432.1:p.Asp669= synonymous
NG_008489.1:g.46396C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:107702029:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA4432997
dbSNP: rs749013429
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 26, 2015 RCV000223046.1
Likely benign 1 criteria provided, single submitter Aug 30, 2018 RCV000944995.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 26, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270852.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Asp669Asp 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
(Aug 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001090979.1
Submitted: (Mar 14, 2019)
Evidence details

Functional evidence

Help
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

Help
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 rs749013429...

Help
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