NM_000075.4(CDK4):c.461T>C (p.Val154Ala) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 29, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000571965.1

Allele description [Variation Report for NM_000075.4(CDK4):c.461T>C (p.Val154Ala)]

NM_000075.4(CDK4):c.461T>C (p.Val154Ala)

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.461T>C (p.Val154Ala)
HGVS:
  • NC_000012.12:g.57750984A>G
  • NG_007484.2:g.6398T>C
  • NM_000075.4:c.461T>CMANE SELECT
  • NP_000066.1:p.Val154Ala
  • LRG_490:g.6398T>C
  • NC_000012.11:g.58144767A>G
  • NM_000075.3:c.461T>C
Protein change:
V154A
Links:
dbSNP: rs1555201304
NCBI 1000 Genomes Browser:
rs1555201304
Molecular consequence:
  • NM_000075.4:c.461T>C - missense variant - [Sequence Ontology: SO:0001583]
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000673194Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 29, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000673194.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.V154A variant (also known as c.461T>C), located in coding exon 3 of the CDK4 gene, results from a T to C substitution at nucleotide position 461. The valine at codon 154 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

Support Center