NM_001267550.2(TTN):c.11311+3847G>T AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041017.7

Allele description [Variation Report for NM_001267550.2(TTN):c.11311+3847G>T]

NM_001267550.2(TTN):c.11311+3847G>T

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.11311+3847G>T
Other names:
p.A4375S:GCA>TCA
HGVS:
  • NC_000002.12:g.178749277C>A
  • NG_011618.3:g.86526G>T
  • NM_001256850.1:c.10360+3847G>T
  • NM_001267550.2:c.11311+3847G>TMANE SELECT
  • NM_003319.4:c.10222+3847G>T
  • NM_133378.4:c.10360+3847G>T
  • NM_133379.5:c.13123G>T
  • NM_133432.3:c.10597+3847G>T
  • NM_133437.4:c.10798+3847G>T
  • NP_596870.2:p.Ala4375Ser
  • LRG_391:g.86526G>T
  • NC_000002.11:g.179614004C>A
  • NM_133379.3:c.13123G>T
  • c.13123G>T
Protein change:
A4375S
Links:
dbSNP: rs72647902
NCBI 1000 Genomes Browser:
rs72647902
Molecular consequence:
  • NM_001256850.1:c.10360+3847G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+3847G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+3847G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+3847G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+3847G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+3847G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.13123G>T - 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
SCV000064708Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 16, 2018)
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, SCV000064708.6

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

Description

p.Ala4375Ser in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.05% (57/125522) of European chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs72647902). In addition, this variant is located in an exon that is only present in an alternate transcript (Novex-3), whose function is unclear. A CMG/AMP Criteria applied: BS1; BP4.

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

Last Updated: Oct 6, 2021

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