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NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 26, 2017
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:
RCV000493517.3

Allele description [Variation Report for NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)]

NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)

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.1221C>G (p.Tyr407Ter)
HGVS:
  • NC_000010.11:g.86921574C>G
  • NG_009362.1:g.169936C>G
  • NM_004329.3:c.1221C>GMANE SELECT
  • NP_004320.2:p.Tyr407Ter
  • NP_004320.2:p.Tyr407Ter
  • LRG_298t1:c.1221C>G
  • LRG_298:g.169936C>G
  • LRG_298p1:p.Tyr407Ter
  • NC_000010.10:g.88681331C>G
  • NM_004329.2:c.1221C>G
Protein change:
Y407*
Links:
dbSNP: rs1131691181
NCBI 1000 Genomes Browser:
rs1131691181
Molecular consequence:
  • NM_004329.3:c.1221C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000581499Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(May 26, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000581499.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Y407* pathogenic mutation (also known as c.1221C>G), located in coding exon 9 of the BMPR1A gene, results from a C to G substitution at nucleotide position 1221. This changes the amino acid from a tyrosine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024