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NM_007373.4(SHOC2):c.441T>C (p.Asn147=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 24, 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:
RCV002329553.2

Allele description [Variation Report for NM_007373.4(SHOC2):c.441T>C (p.Asn147=)]

NM_007373.4(SHOC2):c.441T>C (p.Asn147=)

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.441T>C (p.Asn147=)
HGVS:
  • NC_000010.11:g.110964799T>C
  • NG_028922.1:g.50257T>C
  • NM_001269039.3:c.441T>C
  • NM_001324336.2:c.441T>C
  • NM_001324337.2:c.441T>C
  • NM_007373.4:c.441T>CMANE SELECT
  • NP_001255968.1:p.Asn147=
  • NP_001311265.1:p.Asn147=
  • NP_001311266.1:p.Asn147=
  • NP_031399.2:p.Asn147=
  • LRG_753t1:c.441T>C
  • LRG_753:g.50257T>C
  • NC_000010.10:g.112724557T>C
  • NM_007373.3:c.441T>C
Links:
dbSNP: rs2134121592
NCBI 1000 Genomes Browser:
rs2134121592
Molecular consequence:
  • NM_001269039.3:c.441T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001324336.2:c.441T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001324337.2:c.441T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007373.4:c.441T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002632034Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 24, 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 Ambry Genetics, SCV002632034.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024