NM_004329.3(BMPR1A):c.365T>C (p.Ile122Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 14, 2020
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:: RCV002456085.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.365T>C (p.Ile122Thr)]

NM_004329.3(BMPR1A):c.365T>C (p.Ile122Thr)

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.365T>C (p.Ile122Thr)

HGVS:

NC_000010.11:g.86899825T>C
NG_009362.1:g.148187T>C
NM_004329.3:c.365T>CMANE SELECT
NP_004320.2:p.Ile122Thr
NP_004320.2:p.Ile122Thr
LRG_298t1:c.365T>C
LRG_298:g.148187T>C
LRG_298p1:p.Ile122Thr
NC_000010.10:g.88659582T>C
NM_004329.2:c.365T>C

Protein change:

I122T

Links:

dbSNP: rs1554888971

NCBI 1000 Genomes Browser:

rs1554888971

Molecular consequence:

NM_004329.3:c.365T>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

Recent activity

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PREDICTED: Pseudochaenichthys georgianus small nucleolar RNA SNORD121A (LOC11745...
PREDICTED: Pseudochaenichthys georgianus small nucleolar RNA SNORD121A (LOC117453230), ncRNA
gi|1838197883|ref|XR_004552873.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002613482	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 14, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002613482

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 14, 2020)

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, SCV002613482.2

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

Description

The p.I122T variant (also known as c.365T>C), located in coding exon 4 of the BMPR1A gene, results from a T to C substitution at nucleotide position 365. The isoleucine at codon 122 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Sep 29, 2024

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