NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) AND not specified

Clinical significance:Likely benign (Last evaluated: Mar 19, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000040116.4

Allele description [Variation Report for NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)]

NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
HGVS:
  • NC_000002.12:g.178784114C>T
  • NG_011618.3:g.51689G>A
  • NM_001256850.1:c.2731G>A
  • NM_001267550.2:c.2731G>AMANE SELECT
  • NM_003319.4:c.2593G>A
  • NM_133378.4:c.2731G>A
  • NM_133379.5:c.2731G>A
  • NM_133432.3:c.2593G>A
  • NM_133437.4:c.2593G>A
  • NP_001243779.1:p.Val911Ile
  • NP_001254479.2:p.Val911Ile
  • NP_003310.4:p.Val865Ile
  • NP_596869.4:p.Val911Ile
  • NP_596870.2:p.Val911Ile
  • NP_597676.3:p.Val865Ile
  • NP_597681.4:p.Val865Ile
  • LRG_391:g.51689G>A
  • NC_000002.11:g.179648841C>T
  • c.2731G>A
Protein change:
V865I
Links:
dbSNP: rs141961878
NCBI 1000 Genomes Browser:
rs141961878
Molecular consequence:
  • NM_001256850.1:c.2731G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.2731G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.2731G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.2731G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000063807Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Mar 19, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000063807.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Val911Ile in exon16 of TTN: This variant has been identified in 1/4406 African A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs141961878). It is not expected to have clinical significan ce due to a lack of evolutionary conservation. Of note, 4 mammalian species (gib bon, pika, white rhinoceros, and tasmanian devil) have an isoleucine (Ile) at th is position despite high nearby amino acid conservation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Nov 27, 2021

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