NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro) AND Cardiovascular phenotype

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 4, 2021
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:: RCV002398099.1

Allele description

NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro)

Gene:

SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

Preferred name:

NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro)

HGVS:

NC_000010.11:g.110964527T>C
NG_028922.1:g.49985T>C
NM_001269039.3:c.169T>C
NM_001324336.2:c.169T>C
NM_001324337.2:c.169T>C
NM_007373.4:c.169T>CMANE SELECT
NP_001255968.1:p.Ser57Pro
NP_001311265.1:p.Ser57Pro
NP_001311266.1:p.Ser57Pro
NP_031399.2:p.Ser57Pro
LRG_753t1:c.169T>C
LRG_753:g.49985T>C
NC_000010.10:g.112724285T>C
NM_007373.3:c.169T>C

Protein change:

S57P

Links:

dbSNP: rs754709778

NCBI 1000 Genomes Browser:

rs754709778

Molecular consequence:

NM_001269039.3:c.169T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001324336.2:c.169T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001324337.2:c.169T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007373.4:c.169T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002714131	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Nov 4, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002714131

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Nov 4, 2021)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002714131.1

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

Description

The p.S57P variant (also known as c.169T>C), located in coding exon 1 of the SHOC2 gene, results from a T to C substitution at nucleotide position 169. The serine at codon 57 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 20, 2024

ClinVar

Relating variation to medicine