NM_004329.3(BMPR1A):c.40T>A (p.Tyr14Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 23, 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:: RCV004516716.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.40T>A (p.Tyr14Asn)]

NM_004329.3(BMPR1A):c.40T>A (p.Tyr14Asn)

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.40T>A (p.Tyr14Asn)

HGVS:

NC_000010.11:g.86876058T>A
NG_009362.1:g.124420T>A
NM_001406559.1:c.40T>A
NM_001406560.1:c.40T>A
NM_001406561.1:c.40T>A
NM_001406562.1:c.40T>A
NM_001406563.1:c.40T>A
NM_001406564.1:c.40T>A
NM_001406565.1:c.40T>A
NM_001406566.1:c.40T>A
NM_001406567.1:c.40T>A
NM_001406568.1:c.40T>A
NM_001406569.1:c.40T>A
NM_001406570.1:c.40T>A
NM_001406571.1:c.40T>A
NM_001406572.1:c.40T>A
NM_001406573.1:c.40T>A
NM_001406574.1:c.40T>A
NM_001406575.1:c.40T>A
NM_001406576.1:c.40T>A
NM_001406577.1:c.40T>A
NM_001406578.1:c.40T>A
NM_001406579.1:c.40T>A
NM_001406580.1:c.40T>A
NM_001406581.1:c.40T>A
NM_001406582.1:c.40T>A
NM_001406583.1:c.40T>A
NM_001406584.1:c.-17-14004T>A
NM_001406585.1:c.-17-14004T>A
NM_001406586.1:c.-12-14009T>A
NM_001406587.1:c.-17-14004T>A
NM_001406588.1:c.-40T>A
NM_001406589.1:c.40T>A
NM_004329.3:c.40T>AMANE SELECT
NP_001393488.1:p.Tyr14Asn
NP_001393489.1:p.Tyr14Asn
NP_001393490.1:p.Tyr14Asn
NP_001393491.1:p.Tyr14Asn
NP_001393492.1:p.Tyr14Asn
NP_001393493.1:p.Tyr14Asn
NP_001393494.1:p.Tyr14Asn
NP_001393495.1:p.Tyr14Asn
NP_001393496.1:p.Tyr14Asn
NP_001393497.1:p.Tyr14Asn
NP_001393498.1:p.Tyr14Asn
NP_001393499.1:p.Tyr14Asn
NP_001393500.1:p.Tyr14Asn
NP_001393501.1:p.Tyr14Asn
NP_001393502.1:p.Tyr14Asn
NP_001393503.1:p.Tyr14Asn
NP_001393504.1:p.Tyr14Asn
NP_001393505.1:p.Tyr14Asn
NP_001393506.1:p.Tyr14Asn
NP_001393507.1:p.Tyr14Asn
NP_001393508.1:p.Tyr14Asn
NP_001393509.1:p.Tyr14Asn
NP_001393510.1:p.Tyr14Asn
NP_001393511.1:p.Tyr14Asn
NP_001393512.1:p.Tyr14Asn
NP_001393518.1:p.Tyr14Asn
NP_004320.2:p.Tyr14Asn
NP_004320.2:p.Tyr14Asn
LRG_298t1:c.40T>A
LRG_298:g.124420T>A
LRG_298p1:p.Tyr14Asn
NC_000010.10:g.88635815T>A
NM_004329.2:c.40T>A
NR_176211.1:n.608T>A
NR_176212.1:n.608T>A
NR_176213.1:n.608T>A

Protein change:

Y14N

Molecular consequence:

NM_001406588.1:c.-40T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406584.1:c.-17-14004T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406585.1:c.-17-14004T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406586.1:c.-12-14009T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406587.1:c.-17-14004T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406559.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406560.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406561.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406562.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406563.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406564.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406565.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406566.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406567.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406568.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406569.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406570.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406571.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406572.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406573.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406574.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406575.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406576.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406577.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406578.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406579.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406580.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406581.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406582.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406583.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406589.1:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004329.3:c.40T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_176211.1:n.608T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176212.1:n.608T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176213.1:n.608T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

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AGENCOURT_13321890 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6876420 3', mR...
AGENCOURT_13321890 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6876420 3', mRNA sequence
gi|29485030|gnl|dbEST|17310582|gb|C 00.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005021997	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005021997

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 23, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005021997.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.Y14N variant (also known as c.40T>A), located in coding exon 1 of the BMPR1A gene, results from a T to A substitution at nucleotide position 40. The tyrosine at codon 14 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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