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NM_014028.4(OSTM1):c.36T>G (p.Cys12Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 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:
RCV002556351.2

Allele description [Variation Report for NM_014028.4(OSTM1):c.36T>G (p.Cys12Trp)]

NM_014028.4(OSTM1):c.36T>G (p.Cys12Trp)

Genes:
LOC129996933:ATAC-STARR-seq lymphoblastoid silent region 17446 [Gene]
OSTM1:osteoclastogenesis associated transmembrane protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_014028.4(OSTM1):c.36T>G (p.Cys12Trp)
HGVS:
  • NC_000006.12:g.108074616A>C
  • NG_007262.1:g.5122T>G
  • NM_014028.3:c.36T>G
  • NM_014028.4:c.36T>GMANE SELECT
  • NP_054747.2:p.Cys12Trp
  • NC_000006.11:g.108395820A>C
Protein change:
C12W
Links:
dbSNP: rs119460973
NCBI 1000 Genomes Browser:
rs119460973
Molecular consequence:
  • NM_014028.4:c.36T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003532852Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 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, SCV003532852.2

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

Description

The c.36T>G (p.C12W) alteration is located in exon 1 (coding exon 1) of the OSTM1 gene. This alteration results from a T to G substitution at nucleotide position 36, causing the cysteine (C) at amino acid position 12 to be replaced by a tryptophan (W). 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: Sep 29, 2024