NM_000075.4(CDK4):c.381C>T (p.Gly127=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Dec 30, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000167205.2

Allele description [Variation Report for NM_000075.4(CDK4):c.381C>T (p.Gly127=)]

NM_000075.4(CDK4):c.381C>T (p.Gly127=)

Gene:
CDK4:cyclin dependent kinase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q14.1
Genomic location:
Preferred name:
NM_000075.4(CDK4):c.381C>T (p.Gly127=)
HGVS:
  • NC_000012.12:g.57751064G>A
  • NG_007484.2:g.6318C>T
  • NM_000075.4:c.381C>TMANE SELECT
  • NP_000066.1:p.Gly127=
  • LRG_490:g.6318C>T
  • NC_000012.11:g.58144847G>A
  • NM_000075.3:c.381C>T
  • p.G127G
Links:
dbSNP: rs781207390
NCBI 1000 Genomes Browser:
rs781207390
Molecular consequence:
  • NM_000075.4:c.381C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000218042Ambry Geneticscriteria provided, single submitter
Likely benign
(Dec 30, 2014)
germlineclinical testing

Citation Link,

SCV000886681True Health Diagnosticsno assertion criteria providedLikely benign
(Nov 12, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000218042.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: 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
1germlineunknown1not providednot provided1not providednot providednot provided

From True Health Diagnostics, SCV000886681.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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