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NM_000112.3(SLC26A2):c.1410A>G (p.Val470=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 19, 2018)
Last evaluated:
Sep 2, 2017
Accession:
VCV000281117.1
Variation ID:
281117
Description:
single nucleotide variant
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NM_000112.3(SLC26A2):c.1410A>G (p.Val470=)

Allele ID
265354
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q32
Genomic location
5: 149981003 (GRCh38) GRCh38 UCSC
5: 149360566 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.149360566A>G
NC_000005.10:g.149981003A>G
NM_000112.3:c.1410A>G NP_000103.2:p.Val470= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00998 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00465
1000 Genomes Project 0.00998
Exome Aggregation Consortium (ExAC) 0.00505
The Genome Aggregation Database (gnomAD) 0.00039
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Links
dbSNP: rs115777661
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Sep 2, 2017 RCV000348191.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000279352.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000292325.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000318025.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000349648.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000375055.1
Benign 1 criteria provided, single submitter Jun 16, 2017 RCV000550734.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A2 - - GRCh38
GRCh37
206 219

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Sulfate Transporter-Related Osteochondrodysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454804.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Diastrophic Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454803.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Multiple Epiphyseal Dysplasia, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454806.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Achondrogenesis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454802.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Atelosteogenesis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454805.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 16, 2017)
criteria provided, single submitter
Method: clinical testing
Atelosteogenesis type 2
Multiple epiphyseal dysplasia 4
Achondrogenesis, type IB
Diastrophic dysplasia
Allele origin: germline
Invitae
Accession: SCV000640465.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Sep 02, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714624.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Benign
(Oct 09, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000331422.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SLC26A2 - - - -

Record last updated Jun 13, 2019