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NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Nov 23, 2016)
Last evaluated:
Feb 16, 2016
Accession:
VCV000371708.1
Variation ID:
371708
Description:
4bp deletion
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NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)

Allele ID
357409
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
5q32
Genomic location
5: 149981546-149981549 (GRCh38) GRCh38 UCSC
5: 149361109-149361112 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.149981548_149981551del
NC_000005.9:g.149361111_149361114del
NG_007147.2:g.22666_22669del
... more HGVS
Protein change
D652fs
Other names
-
Canonical SPDI
NC_000005.10:149981545:TGACTG:TG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041000
dbSNP: rs1057517474
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 16, 2016 RCV000409824.1
Likely pathogenic 1 criteria provided, single submitter Feb 16, 2016 RCV000410934.1
Likely pathogenic 1 criteria provided, single submitter Feb 16, 2016 RCV000411814.1
Likely pathogenic 1 criteria provided, single submitter Feb 16, 2016 RCV000412444.1
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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
417 432

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
Method: clinical testing
Multiple epiphyseal dysplasia type 4
Allele origin: unknown
Counsyl
Accession: SCV000487515.1
Submitted: (Nov 23, 2016)
Evidence details
Likely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
Method: clinical testing
Diastrophic dysplasia
Allele origin: unknown
Counsyl
Accession: SCV000487514.1
Submitted: (Nov 23, 2016)
Evidence details
Likely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
Method: clinical testing
Atelosteogenesis type II
Allele origin: unknown
Counsyl
Accession: SCV000487516.1
Submitted: (Nov 23, 2016)
Evidence details
Likely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
Method: clinical testing
Achondrogenesis, type IB
Allele origin: unknown
Counsyl
Accession: SCV000487517.1
Submitted: (Nov 23, 2016)
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 rs1057517474...

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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 Nov 27, 2021