NM_001267550.2(TTN):c.98439G>A (p.Val32813=) AND not specified

Clinical significance:Benign (Last evaluated: Aug 1, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000040870.4

Allele description [Variation Report for NM_001267550.2(TTN):c.98439G>A (p.Val32813=)]

NM_001267550.2(TTN):c.98439G>A (p.Val32813=)

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.98439G>A (p.Val32813=)
Other names:
p.V31172V:GTG>GTA
HGVS:
  • NC_000002.12:g.178539626C>T
  • NG_011618.3:g.296177G>A
  • NG_051363.1:g.21800C>T
  • NM_001256850.1:c.93516G>A
  • NM_001267550.2:c.98439G>AMANE SELECT
  • NM_003319.4:c.71244G>A
  • NM_133378.4:c.90735G>A
  • NM_133432.3:c.71619G>A
  • NM_133437.4:c.71820G>A
  • NP_001243779.1:p.Val31172=
  • NP_001254479.2:p.Val32813=
  • NP_003310.4:p.Val23748=
  • NP_596869.4:p.Val30245=
  • NP_597676.3:p.Val23873=
  • NP_597681.4:p.Val23940=
  • LRG_391t1:c.98439G>A
  • LRG_391:g.296177G>A
  • NC_000002.11:g.179404353C>T
  • NM_001267550.1:c.98439G>A
  • NM_133379.3:c.*205959G>A
  • NP_596869.4:p.(=)
  • NR_038272.1:n.1576C>T
  • c.90735G>A
  • p.Val30245Val
Links:
dbSNP: rs368487246
NCBI 1000 Genomes Browser:
rs368487246
Molecular consequence:
  • NR_038272.1:n.1576C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256850.1:c.93516G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.98439G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.71244G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.90735G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.71619G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.71820G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000064561Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Apr 10, 2012)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000169445GeneDxcriteria provided, single submitter
Benign
(May 15, 2014)
germlineclinical testing

Citation Link,

SCV000203667EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Aug 1, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064561.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Val30245Val in Exon 301 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.6% (20/3522) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

From GeneDx, SCV000169445.11

#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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203667.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 7, 2021

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