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NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 22, 2024
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:
RCV001220771.11

Allele description

NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)

Gene:
BMPR1B:bone morphogenetic protein receptor type 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.3
Genomic location:
Preferred name:
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)
HGVS:
  • NC_000004.12:g.95104435G>A
  • NG_009245.1:g.351459G>A
  • NM_001203.3:c.11G>AMANE SELECT
  • NM_001256792.2:c.11G>A
  • NM_001256793.2:c.101G>A
  • NM_001256794.1:c.11G>A
  • NP_001194.1:p.Arg4Gln
  • NP_001243721.1:p.Arg4Gln
  • NP_001243722.1:p.Arg34Gln
  • NP_001243723.1:p.Arg4Gln
  • NC_000004.11:g.96025586G>A
  • NM_001203.2:c.11G>A
Protein change:
R34Q
Links:
dbSNP: rs150974461
NCBI 1000 Genomes Browser:
rs150974461
Molecular consequence:
  • NM_001203.3:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256792.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256793.2:c.101G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256794.1:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Type A2 brachydactyly (BDA2)
Synonyms:
BRACHYMESOPHALANGY II; Mohr-Wriedt type brachydactyly; Brachydactyly, type 2a; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007216; MedGen: C1832702; Orphanet: 93396; OMIM: 112600; Human Phenotype Ontology: HP:0009372
Name:
Acromesomelic dysplasia 3 (AMD3)
Synonyms:
Chondrodysplasia acromesomelic with genital anomalies; CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES; Acromesomelic dysplasia, Demirhan type
Identifiers:
MONDO: MONDO:0012274; MedGen: C4225404; OMIM: 609441

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001392782Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 22, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001392782.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024