NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 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:: RCV002422929.3

Allele description [Variation Report for NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro)]

NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro)

Gene:

RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

Preferred name:

NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro)

HGVS:

NC_000010.11:g.110812357T>C
NG_021177.1:g.172961T>C
NM_001134363.2:c.1960T>C
NM_001134363.3:c.1960T>CMANE SELECT
NP_001127835.2:p.Ser654Pro
LRG_382t1:c.1960T>C
LRG_382:g.172961T>C
NC_000010.10:g.112572115T>C
NM_001134363.1:c.1960T>C

Protein change:

S654P

Links:

dbSNP: rs1275195637

NCBI 1000 Genomes Browser:

rs1275195637

Molecular consequence:

NM_001134363.3:c.1960T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant ...
Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA
gi|209870089|ref|NM_031991.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002722151	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 24, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002722151

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 24, 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, SCV002722151.3

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

Description

The p.S654P variant (also known as c.1960T>C), located in coding exon 9 of the RBM20 gene, results from a T to C substitution at nucleotide position 1960. The serine at codon 654 is replaced by proline, an amino acid with similar properties. This amino acid position is highly 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: Sep 29, 2024

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