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NM_001168.3(BIRC5):c.23C>T (p.Pro8Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 28, 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:
RCV004429315.1

Allele description [Variation Report for NM_001168.3(BIRC5):c.23C>T (p.Pro8Leu)]

NM_001168.3(BIRC5):c.23C>T (p.Pro8Leu)

Gene:
BIRC5:baculoviral IAP repeat containing 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001168.3(BIRC5):c.23C>T (p.Pro8Leu)
HGVS:
  • NC_000017.11:g.78214339C>T
  • NG_029069.1:g.5144C>T
  • NG_137796.1:g.442C>T
  • NM_001012270.2:c.23C>T
  • NM_001012271.2:c.23C>T
  • NM_001168.3:c.23C>TMANE SELECT
  • NP_001012270.1:p.Pro8Leu
  • NP_001012271.1:p.Pro8Leu
  • NP_001159.2:p.Pro8Leu
  • NC_000017.10:g.76210420C>T
  • NM_001012271.1:c.23C>T
  • NR_002219.1:n.1187G>A
Protein change:
P8L
Molecular consequence:
  • NM_001012270.2:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012271.2:c.23C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001168.3:c.23C>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
SCV004911962Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 28, 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, SCV004911962.1

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

Description

The c.23C>T (p.P8L) alteration is located in exon 1 (coding exon 1) of the BIRC5 gene. This alteration results from a C to T substitution at nucleotide position 23, causing the proline (P) at amino acid position 8 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: May 7, 2024