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NM_017632.4(CDKN2AIP):c.1079C>T (p.Ser360Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 2023
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:
RCV004430982.1

Allele description [Variation Report for NM_017632.4(CDKN2AIP):c.1079C>T (p.Ser360Phe)]

NM_017632.4(CDKN2AIP):c.1079C>T (p.Ser360Phe)

Gene:
CDKN2AIP:CDKN2A interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q35.1
Genomic location:
Preferred name:
NM_017632.4(CDKN2AIP):c.1079C>T (p.Ser360Phe)
HGVS:
  • NC_000004.12:g.183446763C>T
  • NG_050671.1:g.7129C>T
  • NM_001317343.2:c.*667C>T
  • NM_017632.4:c.1079C>TMANE SELECT
  • NP_060102.1:p.Ser360Phe
  • NC_000004.11:g.184367916C>T
  • NM_017632.2:c.1079C>T
Protein change:
S360F
Molecular consequence:
  • NM_001317343.2:c.*667C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_017632.4:c.1079C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004921135Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 2, 2023) 		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, SCV004921135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1079C>T (p.S360F) alteration is located in exon 3 (coding exon 3) of the CDKN2AIP gene. This alteration results from a C to T substitution at nucleotide position 1079, causing the serine (S) at amino acid position 360 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024