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NM_000344.3(SMN1):c.824G>A (p.Gly275Asp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 20, 2017)
Last evaluated:
Feb 26, 2016
Accession:
VCV000634934.1
Variation ID:
634934
Description:
single nucleotide variant
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NM_000344.3(SMN1):c.824G>A (p.Gly275Asp)

Allele ID
622782
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q13.2
Genomic location
5: 70946166 (GRCh38) GRCh38 UCSC
5: 70241993 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.70946166G>A
NC_000005.9:g.70241993G>A
NM_000344.3:c.824G>A NP_000335.1:p.Gly275Asp missense
... more HGVS
Protein change
G275D, G243D
Other names
-
Canonical SPDI
NC_000005.10:70946165:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1561500920
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 26, 2016 RCV000785799.1
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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
(Feb 26, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: maternal, unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000924365.1
Submitted: (Jan 20, 2017)
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 rs1561500920...

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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