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NM_000222.3(KIT):c.1362A>G (p.Val454=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 2, 2020
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:
RCV002383513.2

Allele description [Variation Report for NM_000222.3(KIT):c.1362A>G (p.Val454=)]

NM_000222.3(KIT):c.1362A>G (p.Val454=)

Gene:
KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000222.3(KIT):c.1362A>G (p.Val454=)
HGVS:
  • NC_000004.12:g.54725872A>G
  • NG_007456.1:g.72878A>G
  • NM_000222.3:c.1362A>GMANE SELECT
  • NM_001093772.2:c.1362A>G
  • NM_001385284.1:c.1365A>G
  • NM_001385285.1:c.1362A>G
  • NM_001385286.1:c.1362A>G
  • NM_001385288.1:c.1365A>G
  • NM_001385290.1:c.1365A>G
  • NM_001385292.1:c.1365A>G
  • NP_000213.1:p.Val454=
  • NP_000213.1:p.Val454=
  • NP_001087241.1:p.Val454=
  • NP_001372213.1:p.Val455=
  • NP_001372214.1:p.Val454=
  • NP_001372215.1:p.Val454=
  • NP_001372217.1:p.Val455=
  • NP_001372219.1:p.Val455=
  • NP_001372221.1:p.Val455=
  • LRG_307t1:c.1362A>G
  • LRG_307:g.72878A>G
  • LRG_307p1:p.Val454=
  • NC_000004.11:g.55592038A>G
  • NM_000222.2:c.1362A>G
Molecular consequence:
  • NM_000222.3:c.1362A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001093772.2:c.1362A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385284.1:c.1365A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385285.1:c.1362A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385286.1:c.1362A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385288.1:c.1365A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385290.1:c.1365A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385292.1:c.1365A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002698291Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 2, 2020) 		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, SCV002698291.2

#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: May 1, 2024