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NM_000344.3(SMN1):c.796T>C (p.Ser266Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 20, 2017)
Last evaluated:
Mar 1, 2016
Accession:
VCV000634939.1
Variation ID:
634939
Description:
single nucleotide variant
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NM_000344.3(SMN1):c.796T>C (p.Ser266Pro)

Allele ID
622781
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q13.2
Genomic location
5: 70946138 (GRCh38) GRCh38 UCSC
5: 70241965 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.70946138T>C
NC_000005.9:g.70241965T>C
NM_000344.3:c.796T>C NP_000335.1:p.Ser266Pro missense
... more HGVS
Protein change
S266P, S234P
Other names
-
Canonical SPDI
NC_000005.10:70946137:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561500885
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 Mar 1, 2016 RCV000785804.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMN1 - - GRCh38
GRCh38
GRCh38
GRCh37
124 201

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: biparental, unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000924372.1
Submitted: (Jan 20, 2017)
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
Spinal muscular atrophy diagnostics. Prior TW Journal of child neurology 2007 PMID: 17761649

Text-mined citations for rs1561500885...

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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 Mar 04, 2020