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NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 13, 2021
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:
RCV004126697.1

Allele description [Variation Report for NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile)]

NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile)

Genes:
BMP2K:BMP2 inducible kinase [Gene - OMIM - HGNC]
PAQR3:progestin and adipoQ receptor family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.21
Genomic location:
Preferred name:
NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile)
HGVS:
  • NC_000004.12:g.78911338G>A
  • NG_047162.1:g.139961G>A
  • NG_053104.1:g.33101C>T
  • NM_198892.2:c.2791G>AMANE SELECT
  • NP_942595.1:p.Val931Ile
  • NC_000004.11:g.79832492G>A
  • NM_198892.1:c.2791G>A
Protein change:
V931I
Molecular consequence:
  • NM_198892.2:c.2791G>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
SCV003612468Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 13, 2021) 		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, SCV003612468.2

#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: Nov 10, 2024