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NM_024911.7(WLS):c.25A>G (p.Met9Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 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:
RCV004146088.1

Allele description [Variation Report for NM_024911.7(WLS):c.25A>G (p.Met9Val)]

NM_024911.7(WLS):c.25A>G (p.Met9Val)

Gene:
WLS:Wnt ligand secretion mediator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_024911.7(WLS):c.25A>G (p.Met9Val)
HGVS:
  • NC_000001.11:g.68232275T>C
  • NM_001002292.4:c.25A>G
  • NM_001193334.1:c.25A>G
  • NM_024911.7:c.25A>GMANE SELECT
  • NP_001002292.3:p.Met9Val
  • NP_001180263.1:p.Met9Val
  • NP_079187.3:p.Met9Val
  • NC_000001.10:g.68697958T>C
  • NM_001002292.3:c.25A>G
Protein change:
M9V
Molecular consequence:
  • NM_001002292.4:c.25A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193334.1:c.25A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024911.7:c.25A>G - 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
SCV003620069Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 26, 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, SCV003620069.2

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

Description

The c.25A>G (p.M9V) alteration is located in exon 1 (coding exon 1) of the WLS gene. This alteration results from a A to G substitution at nucleotide position 25, causing the methionine (M) at amino acid position 9 to be replaced by a valine (V). 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: Oct 26, 2024