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NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 26, 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:
RCV000250985.9

Allele description [Variation Report for NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)]

NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)

Genes:
TTN:titin [Gene - OMIM - HGNC]
LOC101927055:uncharacterized LOC101927055 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
Other names:
p.R1416C:CGC>TGC
HGVS:
  • NC_000002.12:g.178777938G>A
  • NG_011618.3:g.57865C>T
  • NM_001256850.1:c.4246C>T
  • NM_001267550.2:c.4246C>TMANE SELECT
  • NM_003319.4:c.4108C>T
  • NM_133378.4:c.4246C>T
  • NM_133379.5:c.4246C>T
  • NM_133432.3:c.4108C>T
  • NM_133437.4:c.4108C>T
  • NP_001243779.1:p.Arg1416Cys
  • NP_001254479.2:p.Arg1416Cys
  • NP_003310.4:p.Arg1370Cys
  • NP_596869.4:p.Arg1416Cys
  • NP_596870.2:p.Arg1416Cys
  • NP_597676.3:p.Arg1370Cys
  • NP_597681.4:p.Arg1370Cys
  • LRG_391:g.57865C>T
  • NC_000002.11:g.179642665G>A
  • NM_001267550.1:c.4246C>T
  • NM_133379.5:c.4246C>T
  • NR_120594.1:n.1013G>A
  • Q8WZ42:p.Arg1416Cys
  • c.4246C>T
Protein change:
R1370C
Links:
UniProtKB: Q8WZ42#VAR_040096; dbSNP: rs72647875
NCBI 1000 Genomes Browser:
rs72647875
Molecular consequence:
  • NM_001256850.1:c.4246C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.4246C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.4108C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.4246C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.4246C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.4108C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.4108C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120594.1:n.1013G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000318421Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Feb 26, 2013) 		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, SCV000318421.5

#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: Jan 13, 2025