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NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 2015
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:
RCV000412950.1

Allele description [Variation Report for NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr)]

NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr)

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.335T>C (p.Ile112Thr)
HGVS:
  • NC_000010.11:g.110964693T>C
  • NG_028922.1:g.50151T>C
  • NM_001269039.3:c.335T>C
  • NM_001324336.2:c.335T>C
  • NM_001324337.2:c.335T>C
  • NM_007373.4:c.335T>CMANE SELECT
  • NP_001255968.1:p.Ile112Thr
  • NP_001311265.1:p.Ile112Thr
  • NP_001311266.1:p.Ile112Thr
  • NP_031399.2:p.Ile112Thr
  • NP_031399.2:p.Ile112Thr
  • LRG_753t1:c.335T>C
  • LRG_753:g.50151T>C
  • LRG_753p1:p.Ile112Thr
  • NC_000010.10:g.112724451T>C
  • NM_007373.3:c.335T>C
Protein change:
I112T
Links:
dbSNP: rs201289608
NCBI 1000 Genomes Browser:
rs201289608
Molecular consequence:
  • NM_001269039.3:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324336.2:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324337.2:c.335T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007373.4:c.335T>C - 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
SCV000491062GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 28, 2015) 		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, SCV000491062.1

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

Description

To our knowledge, the I112T variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism. The I112T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in-silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, 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