NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 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:: RCV002359394.2

Allele description [Variation Report for NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala)]

NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala)

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.616A>G (p.Thr206Ala)

HGVS:

NC_000010.11:g.110964974A>G
NG_028922.1:g.50432A>G
NM_001269039.3:c.616A>G
NM_001324336.2:c.616A>G
NM_001324337.2:c.616A>G
NM_007373.4:c.616A>GMANE SELECT
NP_001255968.1:p.Thr206Ala
NP_001311265.1:p.Thr206Ala
NP_001311266.1:p.Thr206Ala
NP_031399.2:p.Thr206Ala
LRG_753t1:c.616A>G
LRG_753:g.50432A>G
NC_000010.10:g.112724732A>G
NM_007373.3:c.616A>G

Protein change:

T206A

Links:

dbSNP: rs370388274

NCBI 1000 Genomes Browser:

rs370388274

Molecular consequence:

NM_001269039.3:c.616A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001324336.2:c.616A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001324337.2:c.616A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007373.4:c.616A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002654529	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 14, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002654529

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 14, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002654529.2

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

Description

The p.T206A variant (also known as c.616A>G), located in coding exon 1 of the SHOC2 gene, results from an A to G substitution at nucleotide position 616. The threonine at codon 206 is replaced by alanine, 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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