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NM_007373.4(SHOC2):c.445A>G (p.Met149Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 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:
RCV000523780.1

Allele description [Variation Report for NM_007373.4(SHOC2):c.445A>G (p.Met149Val)]

NM_007373.4(SHOC2):c.445A>G (p.Met149Val)

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.445A>G (p.Met149Val)
HGVS:
  • NC_000010.11:g.110964803A>G
  • NG_028922.1:g.50261A>G
  • NM_001269039.3:c.445A>G
  • NM_001324336.2:c.445A>G
  • NM_001324337.2:c.445A>G
  • NM_007373.4:c.445A>GMANE SELECT
  • NP_001255968.1:p.Met149Val
  • NP_001311265.1:p.Met149Val
  • NP_001311266.1:p.Met149Val
  • NP_031399.2:p.Met149Val
  • NP_031399.2:p.Met149Val
  • LRG_753t1:c.445A>G
  • LRG_753:g.50261A>G
  • LRG_753p1:p.Met149Val
  • NC_000010.10:g.112724561A>G
  • NM_007373.3:c.445A>G
Protein change:
M149V
Links:
dbSNP: rs766550166
NCBI 1000 Genomes Browser:
rs766550166
Molecular consequence:
  • NM_001269039.3:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324336.2:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324337.2:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007373.4:c.445A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000621763GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 18, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000621763.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The M194V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M194V variant is observed in 3/24020 (0.013%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016). The M194V variant 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 Methionine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. In addition, the only well-defined pathogenic variant in the SHOC2 gene known to cause a RASopathy is c.4 A>G (p.Ser2Gly). In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024