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NM_007373.4(SHOC2):c.307A>G (p.Met103Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 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:
RCV001293615.1

Allele description [Variation Report for NM_007373.4(SHOC2):c.307A>G (p.Met103Val)]

NM_007373.4(SHOC2):c.307A>G (p.Met103Val)

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.307A>G (p.Met103Val)
HGVS:
  • NC_000010.11:g.110964665A>G
  • NG_028922.1:g.50123A>G
  • NM_001269039.3:c.307A>G
  • NM_001324336.2:c.307A>G
  • NM_001324337.2:c.307A>G
  • NM_007373.4:c.307A>GMANE SELECT
  • NP_001255968.1:p.Met103Val
  • NP_001311265.1:p.Met103Val
  • NP_001311266.1:p.Met103Val
  • NP_031399.2:p.Met103Val
  • LRG_753t1:c.307A>G
  • LRG_753:g.50123A>G
  • NC_000010.10:g.112724423A>G
  • NM_007373.3:c.307A>G
Protein change:
M103V
Links:
Molecular consequence:
  • NM_001269039.3:c.307A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324336.2:c.307A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324337.2:c.307A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007373.4:c.307A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482234Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 8, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001482234.1

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

Description

Variant summary: SHOC2 c.307A>G (p.Met103Val) results in a conservative amino acid change located in the Leucine-rich repeat domain superfamily (IPR032675) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251010 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.307A>G in individuals affected with Noonan Syndrome With Loose Anagen Hair and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jun 23, 2024