NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 24, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000041102.5

Allele description [Variation Report for NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)]

NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
HGVS:
  • NC_000002.12:g.178740143C>T
  • NG_011618.3:g.95660G>A
  • NM_001256850.1:c.12139G>A
  • NM_001267550.2:c.13090G>AMANE SELECT
  • NM_003319.4:c.12001G>A
  • NM_133378.4:c.10361-1783G>A
  • NM_133432.3:c.12376G>A
  • NM_133437.4:c.12577G>A
  • NP_001243779.1:p.Val4047Met
  • NP_001254479.2:p.Val4364Met
  • NP_003310.4:p.Val4001Met
  • NP_597676.3:p.Val4126Met
  • NP_597681.4:p.Val4193Met
  • LRG_391:g.95660G>A
  • NC_000002.11:g.179604870C>T
  • c.12376G>A
Protein change:
V4001M
Links:
dbSNP: rs201506104
NCBI 1000 Genomes Browser:
rs201506104
Molecular consequence:
  • NM_133378.4:c.10361-1783G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.12139G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.13090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.12001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.12376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.12577G>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
SCV000064793Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jul 24, 2014)
germlineclinical testing

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

SCV000722491GeneDxcriteria provided, single submitter
Likely benign
(Aug 24, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot 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, SCV000064793.6

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

Description

Val4126Met in exon 45B of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, >20 mammals have a methionine (Met) at this position despite high nearby ami no acid conservation. This variant has also been identified in 3/3706 African A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs201506104).

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

From GeneDx, SCV000722491.1

#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: Feb 27, 2021

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