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NM_004881.5(TP53I3):c.485G>T (p.Arg162Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 21, 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:
RCV004468301.1

Allele description [Variation Report for NM_004881.5(TP53I3):c.485G>T (p.Arg162Leu)]

NM_004881.5(TP53I3):c.485G>T (p.Arg162Leu)

Genes:
FAM228B:family with sequence similarity 228 member B [Gene - HGNC]
TP53I3:tumor protein p53 inducible protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_004881.5(TP53I3):c.485G>T (p.Arg162Leu)
HGVS:
  • NC_000002.12:g.24080953C>A
  • NG_029715.1:g.9263G>T
  • NM_001206802.2:c.485G>T
  • NM_001291328.2:c.-212C>A
  • NM_004881.5:c.485G>TMANE SELECT
  • NM_147184.4:c.485G>T
  • NP_001193731.1:p.Arg162Leu
  • NP_004872.2:p.Arg162Leu
  • NP_671713.1:p.Arg162Leu
  • NC_000002.11:g.24303823C>A
  • NM_004881.4:c.485G>T
  • NR_111929.2:n.212C>A
Protein change:
R162L
Molecular consequence:
  • NM_001291328.2:c.-212C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001206802.2:c.485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004881.5:c.485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147184.4:c.485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_111929.2:n.212C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004970517Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 21, 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, SCV004970517.1

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

Description

The c.485G>T (p.R162L) alteration is located in exon 3 (coding exon 3) of the TP53I3 gene. This alteration results from a G to T substitution at nucleotide position 485, causing the arginine (R) at amino acid position 162 to be replaced by a leucine (L). 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: Oct 26, 2024