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NM_006306.4(SMC1A):c.859_861del (p.Lys287del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 3, 2017
Accession:
VCV000532573.1
Variation ID:
532573
Description:
3bp deletion
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NM_006306.4(SMC1A):c.859_861del (p.Lys287del)

Allele ID
534882
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
Xp11.22
Genomic location
X: 53412247-53412249 (GRCh38) GRCh38 UCSC
X: 53439197-53439199 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.53439199_53439201del
NC_000023.11:g.53412249_53412251del
NG_006988.2:g.15422_15424del
... more HGVS
Protein change
K265del, K287del
Other names
-
Canonical SPDI
NC_000023.11:53412246:CTTCT:CT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658799760
dbSNP: rs1556890626
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 3, 2017 RCV000639415.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Nov 03, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital muscular hypertrophy-cerebral syndrome
Allele origin: germline
Invitae
Accession: SCV000760989.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This variant, c.859_861delAAG, results in the deletion of 1 amino acids of the SMC1A protein (p.Lys287del), but otherwise preserves the integrity of the reading frame. … (more)

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 rs1556890626...

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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 Oct 24, 2021