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NM_013382.7(POMT2):c.700G>A (p.Val234Ile) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 13, 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:
RCV003258885.3

Allele description [Variation Report for NM_013382.7(POMT2):c.700G>A (p.Val234Ile)]

NM_013382.7(POMT2):c.700G>A (p.Val234Ile)

Genes:
LOC130056175:ATAC-STARR-seq lymphoblastoid silent region 5968 [Gene]
POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_013382.7(POMT2):c.700G>A (p.Val234Ile)
HGVS:
  • NC_000014.9:g.77301206C>T
  • NG_008897.1:g.24677G>A
  • NM_013382.5:c.700G>A
  • NM_013382.7:c.700G>AMANE SELECT
  • NP_037514.2:p.Val234Ile
  • LRG_844t1:c.700G>A
  • LRG_844:g.24677G>A
  • NC_000014.8:g.77767549C>T
Protein change:
V234I
Links:
dbSNP: rs576822260
NCBI 1000 Genomes Browser:
rs576822260
Molecular consequence:
  • NM_013382.7:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003947347Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 13, 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, SCV003947347.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024