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NM_000222.3(KIT):c.1947T>C (p.Asn649=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 2, 2022
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:
RCV002408951.3

Allele description [Variation Report for NM_000222.3(KIT):c.1947T>C (p.Asn649=)]

NM_000222.3(KIT):c.1947T>C (p.Asn649=)

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.1947T>C (p.Asn649=)
HGVS:
  • NC_000004.12:g.54728078T>C
  • NG_007456.1:g.75084T>C
  • NM_000222.3:c.1947T>CMANE SELECT
  • NM_001093772.2:c.1935T>C
  • NM_001385284.1:c.1950T>C
  • NM_001385285.1:c.1947T>C
  • NM_001385286.1:c.1935T>C
  • NM_001385288.1:c.1938T>C
  • NM_001385290.1:c.1950T>C
  • NM_001385292.1:c.1938T>C
  • NP_000213.1:p.Asn649=
  • NP_000213.1:p.Asn649=
  • NP_001087241.1:p.Asn645=
  • NP_001372213.1:p.Asn650=
  • NP_001372214.1:p.Asn649=
  • NP_001372215.1:p.Asn645=
  • NP_001372217.1:p.Asn646=
  • NP_001372219.1:p.Asn650=
  • NP_001372221.1:p.Asn646=
  • LRG_307t1:c.1947T>C
  • LRG_307:g.75084T>C
  • LRG_307p1:p.Asn649=
  • NC_000004.11:g.55594244T>C
  • NM_000222.2:c.1947T>C
Links:
dbSNP: rs878853762
NCBI 1000 Genomes Browser:
rs878853762
Molecular consequence:
  • NM_000222.3:c.1947T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001093772.2:c.1935T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385284.1:c.1950T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385285.1:c.1947T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385286.1:c.1935T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385288.1:c.1938T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385290.1:c.1950T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001385292.1:c.1938T>C - 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
SCV002719335Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 2, 2022) 		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, SCV002719335.2

#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: Sep 29, 2024