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NM_003476.5(CSRP3):c.336G>A (p.Ala112=) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 23, 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:
RCV000246047.10

Allele description [Variation Report for NM_003476.5(CSRP3):c.336G>A (p.Ala112=)]

NM_003476.5(CSRP3):c.336G>A (p.Ala112=)

Gene:
CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
Other names:
p.A112A:GCG>GCA
HGVS:
  • NC_000011.10:g.19186294C>T
  • NG_011932.2:g.29280G>A
  • NM_001369404.1:c.167G>A
  • NM_003476.5:c.336G>AMANE SELECT
  • NP_001356333.1:p.Arg56Gln
  • NP_003467.1:p.Ala112=
  • LRG_440t1:c.336G>A
  • LRG_440:g.29280G>A
  • NC_000011.9:g.19207841C>T
  • NM_003476.3:c.336G>A
  • NM_003476.4:c.336G>A
  • c.336G>A
  • p.Ala112Ala
Protein change:
R56Q
Links:
dbSNP: rs13451
NCBI 1000 Genomes Browser:
rs13451
Molecular consequence:
  • NM_001369404.1:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003476.5:c.336G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000317753Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Benign
(Jun 23, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000317753.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024