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NM_001128849.2(SMARCA4):c.3380A>G (p.Asp1127Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 21, 2016
Accession:
VCV000381629.2
Variation ID:
381629
Description:
single nucleotide variant
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NM_001128849.2(SMARCA4):c.3380A>G (p.Asp1127Gly)

Allele ID
377078
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11027948 (GRCh38) GRCh38 UCSC
19: 11138624 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11027948A>G
NC_000019.9:g.11138624A>G
NM_001128844.2:c.3380A>G NP_001122316.1:p.Asp1127Gly missense
... more HGVS
Protein change
D1127G
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16607997
dbSNP: rs1057521113
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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 Nov 21, 2016 RCV000440122.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCA4 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1928 1939

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 21, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000521108.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The D1127G variant in the SMARCA4 gene has been reported previously in a patient with a clinical diagnosis of Coffin-Siris syndrome, however, it was not ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Dec 17, 2019