NM_004329.3(BMPR1A):c.353T>C (p.Leu118Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 16, 2022
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:: RCV002459478.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.353T>C (p.Leu118Pro)]

NM_004329.3(BMPR1A):c.353T>C (p.Leu118Pro)

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.353T>C (p.Leu118Pro)

HGVS:

NC_000010.11:g.86899813T>C
NG_009362.1:g.148175T>C
NM_001406559.1:c.353T>C
NM_001406560.1:c.353T>C
NM_001406561.1:c.353T>C
NM_001406562.1:c.353T>C
NM_001406563.1:c.353T>C
NM_001406564.1:c.353T>C
NM_001406565.1:c.353T>C
NM_001406566.1:c.353T>C
NM_001406567.1:c.353T>C
NM_001406568.1:c.353T>C
NM_001406569.1:c.353T>C
NM_001406570.1:c.353T>C
NM_001406571.1:c.353T>C
NM_001406572.1:c.353T>C
NM_001406573.1:c.353T>C
NM_001406574.1:c.353T>C
NM_001406575.1:c.353T>C
NM_001406576.1:c.353T>C
NM_001406577.1:c.353T>C
NM_001406578.1:c.353T>C
NM_001406579.1:c.353T>C
NM_001406580.1:c.353T>C
NM_001406581.1:c.353T>C
NM_001406582.1:c.353T>C
NM_001406583.1:c.353T>C
NM_001406584.1:c.269T>C
NM_001406585.1:c.269T>C
NM_001406586.1:c.269T>C
NM_001406587.1:c.269T>C
NM_001406588.1:c.269T>C
NM_004329.3:c.353T>CMANE SELECT
NP_001393488.1:p.Leu118Pro
NP_001393489.1:p.Leu118Pro
NP_001393490.1:p.Leu118Pro
NP_001393491.1:p.Leu118Pro
NP_001393492.1:p.Leu118Pro
NP_001393493.1:p.Leu118Pro
NP_001393494.1:p.Leu118Pro
NP_001393495.1:p.Leu118Pro
NP_001393496.1:p.Leu118Pro
NP_001393497.1:p.Leu118Pro
NP_001393498.1:p.Leu118Pro
NP_001393499.1:p.Leu118Pro
NP_001393500.1:p.Leu118Pro
NP_001393501.1:p.Leu118Pro
NP_001393502.1:p.Leu118Pro
NP_001393503.1:p.Leu118Pro
NP_001393504.1:p.Leu118Pro
NP_001393505.1:p.Leu118Pro
NP_001393506.1:p.Leu118Pro
NP_001393507.1:p.Leu118Pro
NP_001393508.1:p.Leu118Pro
NP_001393509.1:p.Leu118Pro
NP_001393510.1:p.Leu118Pro
NP_001393511.1:p.Leu118Pro
NP_001393512.1:p.Leu118Pro
NP_001393513.1:p.Leu90Pro
NP_001393514.1:p.Leu90Pro
NP_001393515.1:p.Leu90Pro
NP_001393516.1:p.Leu90Pro
NP_001393517.1:p.Leu90Pro
NP_004320.2:p.Leu118Pro
NP_004320.2:p.Leu118Pro
LRG_298t1:c.353T>C
LRG_298:g.148175T>C
LRG_298p1:p.Leu118Pro
NC_000010.10:g.88659570T>C
NM_004329.2:c.353T>C
NR_176211.1:n.921T>C
NR_176212.1:n.921T>C
NR_176213.1:n.921T>C

Protein change:

L118P

Molecular consequence:

NM_001406559.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406560.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406561.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406562.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406563.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406564.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406565.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406566.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406567.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406568.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406569.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406570.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406571.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406572.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406573.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406574.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406575.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406576.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406577.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406578.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406579.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406580.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406581.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406582.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406583.1:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406584.1:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406585.1:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406586.1:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406587.1:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406588.1:c.269T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004329.3:c.353T>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002613656	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002613656

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 16, 2022)

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, SCV002613656.2

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

Description

The p.L118P variant (also known as c.353T>C), located in coding exon 4 of the BMPR1A gene, results from a T to C substitution at nucleotide position 353. The leucine at codon 118 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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 1, 2024

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