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NM_004329.3(BMPR1A):c.309T>G (p.Tyr103Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2015
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:
RCV000218016.3

Allele description [Variation Report for NM_004329.3(BMPR1A):c.309T>G (p.Tyr103Ter)]

NM_004329.3(BMPR1A):c.309T>G (p.Tyr103Ter)

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.309T>G (p.Tyr103Ter)
HGVS:
  • NC_000010.11:g.86892205T>G
  • NG_009362.1:g.140567T>G
  • NM_004329.3:c.309T>GMANE SELECT
  • NP_004320.2:p.Tyr103Ter
  • NP_004320.2:p.Tyr103Ter
  • LRG_298t1:c.309T>G
  • LRG_298:g.140567T>G
  • LRG_298p1:p.Tyr103Ter
  • NC_000010.10:g.88651962T>G
  • NM_004329.2:c.309T>G
Protein change:
Y103*
Links:
dbSNP: rs876658891
NCBI 1000 Genomes Browser:
rs876658891
Molecular consequence:
  • NM_004329.3:c.309T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000274721Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 25, 2015) 		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, SCV000274721.7

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

Description

The p.Y103* pathogenic mutation (also known as c.309T>G), located in coding exon 3 of the BMPR1A gene, results from a T to G substitution at nucleotide position 309. This changes the amino acid from a tyrosine to a stop codon within coding exon 3. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: May 1, 2024