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NM_000377.2(WAS):c.695_697delAGA

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2019)
Last evaluated:
Sep 4, 2018
Accession:
VCV000566605.2
Variation ID:
566605
Description:
3bp microsatellite
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NM_000377.2(WAS):c.695_697delAGA

Allele ID
575423
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
Xp11.23
Genomic location
X: 48686916-48686918 (GRCh38) GRCh38 UCSC
X: 48545305-48545307 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.48686910_48686912AGA[2]
NC_000023.10:g.48545299_48545301AGA[2]
NM_000377.2:c.689_691AGA[2] NP_000368.1:p.Lys232del
... more HGVS
Protein change
K232del
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs782409127
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Sep 4, 2018 RCV000686462.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WAS - - GRCh38
GRCh37
134 294

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 04, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000813981.2
Submitted: (Mar 14, 2019)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Jan 08, 2020