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NM_001203.3(BMPR1B):c.1384-8T>C AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 23, 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:
RCV002502353.3

Allele description [Variation Report for NM_001203.3(BMPR1B):c.1384-8T>C]

NM_001203.3(BMPR1B):c.1384-8T>C

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.1384-8T>C
HGVS:
  • NC_000004.12:g.95154540T>C
  • NG_009245.1:g.401564T>C
  • NM_001203.3:c.1384-8T>CMANE SELECT
  • NM_001256792.2:c.1384-8T>C
  • NM_001256793.2:c.1474-8T>C
  • NM_001256794.1:c.1384-8T>C
  • NC_000004.11:g.96075691T>C
  • NM_001203.2:c.1384-8T>C
Links:
dbSNP: rs201359647
NCBI 1000 Genomes Browser:
rs201359647
Molecular consequence:
  • NM_001203.3:c.1384-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256792.2:c.1384-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256793.2:c.1474-8T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256794.1:c.1384-8T>C - intron variant - [Sequence Ontology: SO:0001627]

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
Name:
Brachydactyly type A1D
Synonyms:
Brachydactyly, type a1, d
Identifiers:
MONDO: MONDO:0014798; MedGen: C4225183; Orphanet: 93388; OMIM: 616849

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002804427Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Dec 23, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002804427.1

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

Last Updated: Sep 29, 2024