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NM_006426.3(DPYSL4):c.32G>A (p.Arg11Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 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:
RCV004263483.1

Allele description [Variation Report for NM_006426.3(DPYSL4):c.32G>A (p.Arg11Gln)]

NM_006426.3(DPYSL4):c.32G>A (p.Arg11Gln)

Gene:
DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
NM_006426.3(DPYSL4):c.32G>A (p.Arg11Gln)
HGVS:
  • NC_000010.11:g.132187095G>A
  • NM_006426.3:c.32G>AMANE SELECT
  • NP_006417.2:p.Arg11Gln
  • NC_000010.10:g.134000599G>A
  • NM_006426.2:c.32G>A
Protein change:
R11Q
Molecular consequence:
  • NM_006426.3:c.32G>A - 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
SCV003888897Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 15, 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, SCV003888897.2

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

Description

The c.32G>A (p.R11Q) alteration is located in exon 1 (coding exon 1) of the DPYSL4 gene. This alteration results from a G to A substitution at nucleotide position 32, causing the arginine (R) at amino acid position 11 to be replaced by a glutamine (Q). 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