NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 25, 2020)

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:
RCV000040646.6

Allele description [Variation Report for NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)]

NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
HGVS:
  • NC_000002.12:g.178773995G>A
  • NG_011618.3:g.61808C>T
  • NM_001256850.1:c.7173C>T
  • NM_001267550.2:c.7173C>TMANE SELECT
  • NM_003319.4:c.7035C>T
  • NM_133378.4:c.7173C>T
  • NM_133379.5:c.7173C>T
  • NM_133432.3:c.7035C>T
  • NM_133437.4:c.7035C>T
  • NP_001243779.1:p.Asp2391=
  • NP_001254479.2:p.Asp2391=
  • NP_003310.4:p.Asp2345=
  • NP_596869.4:p.Asp2391=
  • NP_596870.2:p.Asp2391=
  • NP_597676.3:p.Asp2345=
  • NP_597681.4:p.Asp2345=
  • LRG_391:g.61808C>T
  • NC_000002.11:g.179638722G>A
  • NM_001267550.1:c.7173C>T
  • c.7173C>T
  • p.Asp2391Asp
Links:
dbSNP: rs374509926
NCBI 1000 Genomes Browser:
rs374509926
Molecular consequence:
  • NM_001256850.1:c.7173C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.7173C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.7035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.7173C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133379.5:c.7173C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.7035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.7035C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000064337Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Sep 1, 2012)
germlineclinical testing

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

SCV000530965GeneDxcriteria provided, single submitter
Likely benign
(Aug 12, 2016)
germlineclinical testing

Citation Link,

SCV001879690Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Nov 25, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not providednot providednot providedclinical testing
not providedunknownunknownnot 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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064337.6

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

Description

Asp2391Asp in exon 31 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 3/8600 European Amer ican chromosomes by the NHLBI Exome sequencing project in a broad population (ht tp://evs.gs.washington.edu/EVS). Asp2391Asp in exon 31 of TTN (allele frequenc y = 3/8600) **

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

From GeneDx, SCV000530965.4

#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 Athena Diagnostics Inc, SCV001879690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

Support Center