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NM_000112.4(SLC26A2):c.391del (p.Leu131fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
5 (Most recent: Nov 23, 2016)
Last evaluated:
Jun 24, 2016
Accession:
VCV000004088.1
Variation ID:
4088
Description:
1bp deletion
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NM_000112.4(SLC26A2):c.391del (p.Leu131fs)

Allele ID
19127
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5q32
Genomic location
5: 149978041 (GRCh38) GRCh38 UCSC
5: 149357604 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.149978043del
NC_000005.9:g.149357606del
NG_007147.2:g.19161del
... more HGVS
Protein change
L131fs
Other names
-
Canonical SPDI
NC_000005.10:149978040:CCC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA252989
OMIM: 606718.0012
dbSNP: rs786200881
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 8931695 Fig. 4 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jun 24, 2016 RCV000004304.5
Likely pathogenic 1 criteria provided, single submitter Jun 24, 2016 RCV000410549.1
Likely pathogenic 1 criteria provided, single submitter Jun 24, 2016 RCV000411386.1
Likely pathogenic 1 criteria provided, single submitter Jun 24, 2016 RCV000409927.1
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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
(Jun 24, 2016)
criteria provided, single submitter
Method: clinical testing
Diastrophic dysplasia
Allele origin: unknown
Counsyl
Accession: SCV000487650.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jun 24, 2016)
criteria provided, single submitter
Method: clinical testing
Achondrogenesis, type IB
Allele origin: unknown
Counsyl
Accession: SCV000487653.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jun 24, 2016)
criteria provided, single submitter
Method: clinical testing
Atelosteogenesis type II
Allele origin: unknown
Counsyl
Accession: SCV000487652.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jun 24, 2016)
criteria provided, single submitter
Method: clinical testing
Multiple epiphyseal dysplasia type 4
Allele origin: unknown
Counsyl
Accession: SCV000487651.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Dec 01, 1996)
no assertion criteria provided
Method: literature only
ATELOSTEOGENESIS, TYPE II
Allele origin: germline
OMIM
Accession: SCV000024471.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Rossi A Human genetics 1996 PMID: 8931695

Text-mined citations for rs786200881...

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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