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NM_001204.7(BMPR2):c.2953C>T (p.Arg985Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 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:
RCV004433936.1

Allele description [Variation Report for NM_001204.7(BMPR2):c.2953C>T (p.Arg985Cys)]

NM_001204.7(BMPR2):c.2953C>T (p.Arg985Cys)

Gene:
BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.2
Genomic location:
Preferred name:
NM_001204.7(BMPR2):c.2953C>T (p.Arg985Cys)
HGVS:
  • NC_000002.12:g.202559782C>T
  • NG_009363.1:g.188456C>T
  • NM_001204.7:c.2953C>TMANE SELECT
  • NP_001195.2:p.Arg985Cys
  • NP_001195.2:p.Arg985Cys
  • LRG_712t1:c.2953C>T
  • LRG_712:g.188456C>T
  • LRG_712p1:p.Arg985Cys
  • NC_000002.11:g.203424505C>T
  • NM_001204.6:c.2953C>T
Protein change:
R985C
Molecular consequence:
  • NM_001204.7:c.2953C>T - 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
SCV004915284Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 20, 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, SCV004915284.1

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

Description

The c.2953C>T (p.R985C) alteration is located in exon 13 (coding exon 13) of the BMPR2 gene. This alteration results from a C to T substitution at nucleotide position 2953, causing the arginine (R) at amino acid position 985 to be replaced by a cysteine (C). 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: May 7, 2024