NM_004099.6(STOM):c.352G>A (p.Val118Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 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:
RCV004668158.1

Allele description [Variation Report for NM_004099.6(STOM):c.352G>A (p.Val118Met)]

NM_004099.6(STOM):c.352G>A (p.Val118Met)

Gene:
STOM:stomatin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.2
Genomic location:
Preferred name:
NM_004099.6(STOM):c.352G>A (p.Val118Met)
HGVS:
  • NC_000009.12:g.121349293C>T
  • NM_001270526.2:c.352G>A
  • NM_001270527.2:c.352G>A
  • NM_004099.6:c.352G>AMANE SELECT
  • NM_198194.3:c.165+6760G>A
  • NP_001257455.1:p.Val118Met
  • NP_001257456.1:p.Val118Met
  • NP_004090.4:p.Val118Met
  • NC_000009.11:g.124111571C>T
  • NM_004099.4:c.352G>A
  • NR_073037.2:n.545G>A
Protein change:
V118M
Molecular consequence:
  • NM_198194.3:c.165+6760G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001270526.2:c.352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270527.2:c.352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004099.6:c.352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073037.2:n.545G>A - 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
SCV005165304Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 29, 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, SCV005165304.1

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

Description

The c.352G>A (p.V118M) alteration is located in exon 5 (coding exon 5) of the STOM gene. This alteration results from a G to A substitution at nucleotide position 352, causing the valine (V) at amino acid position 118 to be replaced by a methionine (M). 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