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NM_003930.5(SKAP2):c.172A>G (p.Ile58Val) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 23, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004256838.1

Allele description [Variation Report for NM_003930.5(SKAP2):c.172A>G (p.Ile58Val)]

NM_003930.5(SKAP2):c.172A>G (p.Ile58Val)

Gene:
SKAP2:src kinase associated phosphoprotein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.2
Genomic location:
Preferred name:
NM_003930.5(SKAP2):c.172A>G (p.Ile58Val)
HGVS:
  • NC_000007.14:g.26854786T>C
  • NM_001303468.2:c.-345A>G
  • NM_003930.5:c.172A>GMANE SELECT
  • NP_003921.2:p.Ile58Val
  • NC_000007.13:g.26894405T>C
  • NM_003930.3:c.172A>G
Protein change:
I58V
Molecular consequence:
  • NM_001303468.2:c.-345A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_003930.5:c.172A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003882935Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 23, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003882935.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024