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NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
Jan 21, 2014
Accession:
VCV000225076.4
Variation ID:
225076
Description:
single nucleotide variant
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NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys)

Allele ID
226994
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53380660 (GRCh38) GRCh38 UCSC
X: 53407581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.53407581A>C
NC_000023.11:g.53380660A>C
NM_001281463.1:c.3512T>G NP_001268392.1:p.Phe1171Cys missense
... more HGVS
Protein change
F1171C, F1193C
Other names
-
Canonical SPDI
NC_000023.11:53380659:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA358103
dbSNP: rs869312954
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 Jan 21, 2014 RCV000210626.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMC1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
453 610

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 21, 2014)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000262978.5
Submitted: (Nov 30, 2020)
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 rs869312954...

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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 Dec 07, 2020