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NM_000344.3(SMN1):c.785G>T (p.Ser262Ile)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 31, 2018)
Last evaluated:
Sep 7, 2017
Accession:
VCV000009165.3
Variation ID:
9165
Description:
single nucleotide variant
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NM_000344.3(SMN1):c.785G>T (p.Ser262Ile)

Allele ID
24204
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q13.2
Genomic location
5: 70946127 (GRCh38) GRCh38 UCSC
5: 70241954 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.70946127G>T
NC_000005.9:g.70241954G>T
NG_008691.1:g.26187G>T
... more HGVS
Protein change
S262I, S230I
Other names
-
Canonical SPDI
NC_000005.10:70946126:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA254675
UniProtKB: Q16637#VAR_005616
OMIM: 600354.0003
dbSNP: rs1554066659
Varsome
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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 Mar 3, 2016 RCV000009736.4
Pathogenic 1 criteria provided, single submitter Sep 7, 2017 RCV000713373.2
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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
Pathogenic
(Sep 07, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843973.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (9)
Likely pathogenic
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
Kugelberg-Welander disease
Allele origin: maternal, unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000924377.1
Submitted: (Jan 20, 2017)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 01, 1997)
no assertion criteria provided
Method: literature only
SPINAL MUSCULAR ATROPHY, TYPE III
Allele origin: germline
OMIM
Accession: SCV000029957.2
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
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Tiziano FD European journal of human genetics : EJHG 2013 PMID: 23073312
The survival motor neuron protein forms soluble glycine zipper oligomers. Martin R Structure (London, England : 1993) 2012 PMID: 23022347
Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. Morse R Neuromolecular medicine 2011 PMID: 21082361
Targeting of SMN to Cajal bodies is mediated by self-association. Morse R Human molecular genetics 2007 PMID: 17635841
Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. Hua Y Biochemical and biophysical research communications 2004 PMID: 14715275
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Wirth B American journal of human genetics 1999 PMID: 10205265
The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding. Lorson CL Human molecular genetics 1998 PMID: 9668169
SMN oligomerization defect correlates with spinal muscular atrophy severity. Lorson CL Nature genetics 1998 PMID: 9590291
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hahnen E Human molecular genetics 1997 PMID: 9158159

Text-mined citations for rs1554066659...

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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 Sep 29, 2021