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NM_152266.5(FAAP24):c.17C>T (p.Pro6Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 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:
RCV004378392.1

Allele description [Variation Report for NM_152266.5(FAAP24):c.17C>T (p.Pro6Leu)]

NM_152266.5(FAAP24):c.17C>T (p.Pro6Leu)

Gene:
FAAP24:FA core complex associated protein 24 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_152266.5(FAAP24):c.17C>T (p.Pro6Leu)
HGVS:
  • NC_000019.10:g.32973213C>T
  • NM_001300978.2:c.-42-847C>T
  • NM_152266.5:c.17C>TMANE SELECT
  • NP_689479.1:p.Pro6Leu
  • NC_000019.9:g.33464119C>T
  • NM_152266.3:c.17C>T
Protein change:
P6L
Molecular consequence:
  • NM_001300978.2:c.-42-847C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_152266.5:c.17C>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
SCV004867279Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 13, 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, SCV004867279.1

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

Description

The c.17C>T (p.P6L) alteration is located in exon 2 (coding exon 1) of the FAAP24 gene. This alteration results from a C to T substitution at nucleotide position 17, causing the proline (P) at amino acid position 6 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