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NM_020196.3(XAB2):c.944C>T (p.Ser315Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 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:
RCV004685660.1

Allele description [Variation Report for NM_020196.3(XAB2):c.944C>T (p.Ser315Leu)]

NM_020196.3(XAB2):c.944C>T (p.Ser315Leu)

Gene:
XAB2:XPA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_020196.3(XAB2):c.944C>T (p.Ser315Leu)
HGVS:
  • NC_000019.10:g.7624324G>A
  • NM_020196.3:c.944C>TMANE SELECT
  • NP_064581.2:p.Ser315Leu
  • NC_000019.9:g.7689210G>A
  • NM_020196.2:c.944C>T
Protein change:
S315L
Molecular consequence:
  • NM_020196.3:c.944C>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
SCV005175234Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 6, 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, SCV005175234.1

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

Description

The c.944C>T (p.S315L) alteration is located in exon 7 (coding exon 7) of the XAB2 gene. This alteration results from a C to T substitution at nucleotide position 944, causing the serine (S) at amino acid position 315 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: Aug 11, 2024