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NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 6, 2018
Review status:
criteria provided, conflicting classifications
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:
RCV000159108.9

Allele description [Variation Report for NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)]

NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)

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.38A>C (p.Glu13Ala)
Other names:
p.E13A:GAA>GCA; NM_007373.3(SHOC2):c.38A>C
HGVS:
  • NC_000010.11:g.110964396A>C
  • NG_028922.1:g.49854A>C
  • NM_001269039.3:c.38A>C
  • NM_001324336.2:c.38A>C
  • NM_001324337.2:c.38A>C
  • NM_007373.4:c.38A>CMANE SELECT
  • NP_001255968.1:p.Glu13Ala
  • NP_001311265.1:p.Glu13Ala
  • NP_001311266.1:p.Glu13Ala
  • NP_031399.2:p.Glu13Ala
  • NP_031399.2:p.Glu13Ala
  • LRG_753t1:c.38A>C
  • LRG_753:g.49854A>C
  • LRG_753p1:p.Glu13Ala
  • NC_000010.10:g.112724154A>C
  • NM_001269039.1:c.38A>C
  • NM_007373.3:c.38A>C
Protein change:
E13A
Links:
dbSNP: rs730881018
NCBI 1000 Genomes Browser:
rs730881018
Molecular consequence:
  • NM_001269039.3:c.38A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324336.2:c.38A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324337.2:c.38A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007373.4:c.38A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209052GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Jun 6, 2016) 		germlineclinical testing

Citation Link,

SCV000859601Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Feb 6, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000209052.5

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Eurofins Ntd Llc (ga), SCV000859601.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024