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NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 17, 2018
Review status:
criteria provided, conflicting classifications
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:
RCV000728962.7

Allele description [Variation Report for NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)]

NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)
HGVS:
  • NC_000002.12:g.178615356G>A
  • NG_011618.3:g.220447C>T
  • NG_051363.1:g.97530G>A
  • NM_001256850.1:c.43666C>T
  • NM_001267550.2:c.48589C>TMANE SELECT
  • NM_003319.4:c.21394C>T
  • NM_133378.4:c.40885C>T
  • NM_133432.3:c.21769C>T
  • NM_133437.4:c.21970C>T
  • NP_001243779.1:p.Arg14556Cys
  • NP_001254479.2:p.Arg16197Cys
  • NP_003310.4:p.Arg7132Cys
  • NP_596869.4:p.Arg13629Cys
  • NP_597676.3:p.Arg7257Cys
  • NP_597681.4:p.Arg7324Cys
  • LRG_391:g.220447C>T
  • NC_000002.11:g.179480083G>A
  • NR_038271.1:n.1586G>A
Protein change:
R13629C
Links:
dbSNP: rs748917057
NCBI 1000 Genomes Browser:
rs748917057
Molecular consequence:
  • NM_001256850.1:c.43666C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.48589C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.21394C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.40885C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.21769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.21970C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038271.1:n.1586G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000856591Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Sep 1, 2017)
germlineclinical testing

Citation Link,

SCV000981776GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely benign
(May 17, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000856591.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000981776.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024