NM_004329.3(BMPR1A):c.23T>G (p.Ile8Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 25, 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:: RCV002430672.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.23T>G (p.Ile8Ser)]

NM_004329.3(BMPR1A):c.23T>G (p.Ile8Ser)

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.23T>G (p.Ile8Ser)

HGVS:

NC_000010.11:g.86876041T>G
NG_009362.1:g.124403T>G
NM_001406559.1:c.23T>G
NM_001406560.1:c.23T>G
NM_001406561.1:c.23T>G
NM_001406562.1:c.23T>G
NM_001406563.1:c.23T>G
NM_001406564.1:c.23T>G
NM_001406565.1:c.23T>G
NM_001406566.1:c.23T>G
NM_001406567.1:c.23T>G
NM_001406568.1:c.23T>G
NM_001406569.1:c.23T>G
NM_001406570.1:c.23T>G
NM_001406571.1:c.23T>G
NM_001406572.1:c.23T>G
NM_001406573.1:c.23T>G
NM_001406574.1:c.23T>G
NM_001406575.1:c.23T>G
NM_001406576.1:c.23T>G
NM_001406577.1:c.23T>G
NM_001406578.1:c.23T>G
NM_001406579.1:c.23T>G
NM_001406580.1:c.23T>G
NM_001406581.1:c.23T>G
NM_001406582.1:c.23T>G
NM_001406583.1:c.23T>G
NM_001406588.1:c.-57T>G
NM_001406589.1:c.23T>G
NM_004329.3:c.23T>GMANE SELECT
NP_001393488.1:p.Ile8Ser
NP_001393489.1:p.Ile8Ser
NP_001393490.1:p.Ile8Ser
NP_001393491.1:p.Ile8Ser
NP_001393492.1:p.Ile8Ser
NP_001393493.1:p.Ile8Ser
NP_001393494.1:p.Ile8Ser
NP_001393495.1:p.Ile8Ser
NP_001393496.1:p.Ile8Ser
NP_001393497.1:p.Ile8Ser
NP_001393498.1:p.Ile8Ser
NP_001393499.1:p.Ile8Ser
NP_001393500.1:p.Ile8Ser
NP_001393501.1:p.Ile8Ser
NP_001393502.1:p.Ile8Ser
NP_001393503.1:p.Ile8Ser
NP_001393504.1:p.Ile8Ser
NP_001393505.1:p.Ile8Ser
NP_001393506.1:p.Ile8Ser
NP_001393507.1:p.Ile8Ser
NP_001393508.1:p.Ile8Ser
NP_001393509.1:p.Ile8Ser
NP_001393510.1:p.Ile8Ser
NP_001393511.1:p.Ile8Ser
NP_001393512.1:p.Ile8Ser
NP_001393518.1:p.Ile8Ser
NP_004320.2:p.Ile8Ser
NP_004320.2:p.Ile8Ser
LRG_298t1:c.23T>G
LRG_298:g.124403T>G
LRG_298p1:p.Ile8Ser
NC_000010.10:g.88635798T>G
NM_004329.2:c.23T>G
NR_176211.1:n.591T>G
NR_176212.1:n.591T>G
NR_176213.1:n.591T>G

Protein change:

I8S

Molecular consequence:

NM_001406559.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406560.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406561.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406562.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406563.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406564.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406565.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406566.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406567.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406568.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406569.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406570.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406571.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406572.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406573.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406574.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406575.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406576.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406577.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406578.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406579.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406580.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406581.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406582.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406583.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406589.1:c.23T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004329.3:c.23T>G - 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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Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA
Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA
gi|1519246297|ref|NM_030776.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002731512	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 25, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002731512

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 25, 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, SCV002731512.2

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

Description

The p.I8S variant (also known as c.23T>G), located in coding exon 1 of the BMPR1A gene, results from a T to G substitution at nucleotide position 23. The isoleucine at codon 8 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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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