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NM_004064.5(CDKN1B):c.1_15del (p.Met1_Arg5del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 12, 2024
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:
RCV002430000.2

Allele description [Variation Report for NM_004064.5(CDKN1B):c.1_15del (p.Met1_Arg5del)]

NM_004064.5(CDKN1B):c.1_15del (p.Met1_Arg5del)

Gene:
CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p13.1
Genomic location:
Preferred name:
NM_004064.5(CDKN1B):c.1_15del (p.Met1_Arg5del)
HGVS:
  • NC_000012.12:g.12717840_12717854del
  • NG_016341.1:g.5473_5487del
  • NM_004064.5:c.1_15delMANE SELECT
  • NP_004055.1:p.Met1_Arg5del
  • NC_000012.11:g.12870774_12870788del
  • NM_004064.3:c.1_15del15
  • NM_004064.4:c.1_15del
Links:
dbSNP: rs758613901
NCBI 1000 Genomes Browser:
rs758613901
Molecular consequence:
  • NM_004064.5:c.1_15del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004064.5:c.1_15del - initiator_codon_variant - [Sequence Ontology: SO:0001582]

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
SCV002743965Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 12, 2024) 		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, SCV002743965.3

#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