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NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 7, 2013
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:
RCV000249819.9

Allele description [Variation Report for NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)]

NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
Other names:
p.R3367Q:CGG>CAG
HGVS:
  • NC_000002.12:g.178764191C>T
  • NG_011618.3:g.71612G>A
  • NM_001256850.1:c.10100G>A
  • NM_001267550.2:c.10100G>AMANE SELECT
  • NM_003319.4:c.9962G>A
  • NM_133378.4:c.10100G>A
  • NM_133379.5:c.10100G>A
  • NM_133432.3:c.9962G>A
  • NM_133437.4:c.9962G>A
  • NP_001243779.1:p.Arg3367Gln
  • NP_001254479.2:p.Arg3367Gln
  • NP_003310.4:p.Arg3321Gln
  • NP_596869.4:p.Arg3367Gln
  • NP_596870.2:p.Arg3367Gln
  • NP_597676.3:p.Arg3321Gln
  • NP_597681.4:p.Arg3321Gln
  • LRG_391:g.71612G>A
  • NC_000002.11:g.179628918C>T
  • NM_001267550.1:c.10100G>A
  • Q8WZ42:p.Arg3367Gln
  • c.10100G>A
Protein change:
R3321Q
Links:
UniProtKB: Q8WZ42#VAR_040123; dbSNP: rs34819099
NCBI 1000 Genomes Browser:
rs34819099
Molecular consequence:
  • NM_001256850.1:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.9962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.10100G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.9962G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.9962G>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000318301Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Feb 7, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318301.5

#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: Nov 10, 2024