NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 3, 2017
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:: RCV000479328.2

Allele description [Variation Report for NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)]

NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)

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.610A>G (p.Ile204Val)

HGVS:

NC_000010.11:g.110964968A>G
NG_028922.1:g.50426A>G
NM_001269039.3:c.610A>G
NM_001324336.2:c.610A>G
NM_001324337.2:c.610A>G
NM_007373.4:c.610A>GMANE SELECT
NP_001255968.1:p.Ile204Val
NP_001311265.1:p.Ile204Val
NP_001311266.1:p.Ile204Val
NP_031399.2:p.Ile204Val
NP_031399.2:p.Ile204Val
LRG_753t1:c.610A>G
LRG_753:g.50426A>G
LRG_753p1:p.Ile204Val
NC_000010.10:g.112724726A>G
NM_007373.3:c.610A>G

Protein change:

I204V

Links:

dbSNP: rs200015085

NCBI 1000 Genomes Browser:

rs200015085

Molecular consequence:

NM_001269039.3:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001324336.2:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001324337.2:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007373.4:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000574438	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 3, 2017)	germline	clinical testing	Citation Link,
SCV000925217	Stanford Center for Inherited Cardiovascular Disease, Stanford University	no assertion criteria provided	Uncertain significance (Mar 2, 2016)	germline	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000574438

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 3, 2017)

germline

clinical testing

Citation Link,

SCV000925217

Stanford Center for Inherited Cardiovascular Disease, Stanford University

no assertion criteria provided

Uncertain significance
(Mar 2, 2016)

germline

provider interpretation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	provider interpretation

Details of each submission

From GeneDx, SCV000574438.4

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

Description

The I204V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 2/10232 (0.02%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). I204V is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000925217.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

#	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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