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NM_004329.3(BMPR1A):c.-268+225C>T AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 18, 2018
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:
RCV000839468.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.-268+225C>T]

NM_004329.3(BMPR1A):c.-268+225C>T

Gene:
BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_004329.3(BMPR1A):c.-268+225C>T
HGVS:
  • NC_000010.11:g.86757144C>T
  • NG_009362.1:g.5506C>T
  • NM_004329.3:c.-268+225C>TMANE SELECT
  • LRG_298t1:c.-268+225C>T
  • LRG_298:g.5506C>T
  • NC_000010.10:g.88516901C>T
  • NM_004329.2:c.-268+225C>T
Links:
dbSNP: rs79181991
NCBI 1000 Genomes Browser:
rs79181991
Molecular consequence:
  • NM_004329.3:c.-268+225C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000981367GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jun 18, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000981367.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Dec 24, 2023