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NM_005108.4(XYLB):c.1382A>G (p.Tyr461Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 2022
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:
RCV004193199.1

Allele description [Variation Report for NM_005108.4(XYLB):c.1382A>G (p.Tyr461Cys)]

NM_005108.4(XYLB):c.1382A>G (p.Tyr461Cys)

Gene:
XYLB:xylulokinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_005108.4(XYLB):c.1382A>G (p.Tyr461Cys)
HGVS:
  • NC_000003.12:g.38397103A>G
  • NM_001349178.2:c.1382A>G
  • NM_001349179.2:c.971A>G
  • NM_005108.4:c.1382A>GMANE SELECT
  • NP_001336107.1:p.Tyr461Cys
  • NP_001336108.1:p.Tyr324Cys
  • NP_005099.2:p.Tyr461Cys
  • NC_000003.11:g.38438594A>G
  • NM_005108.3:c.1382A>G
  • NR_146068.2:n.1274A>G
Protein change:
Y324C
Molecular consequence:
  • NM_001349178.2:c.1382A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349179.2:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005108.4:c.1382A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146068.2:n.1274A>G - 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
SCV003694731Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 6, 2022) 		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, SCV003694731.2

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

Description

The c.1382A>G (p.Y461C) alteration is located in exon 17 (coding exon 17) of the XYLB gene. This alteration results from a A to G substitution at nucleotide position 1382, causing the tyrosine (Y) at amino acid position 461 to be replaced by a cysteine (C). 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: Nov 10, 2024