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NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) AND not specified

Germline classification:
Benign (6 submissions)
Last evaluated:
Jan 28, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000040393.21

Allele description [Variation Report for NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)]

NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)

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.57462G>A (p.Gln19154=)
Other names:
p.Q17513Q:CAG>CAA
HGVS:
  • NC_000002.12:g.178597620C>T
  • NG_011618.3:g.238183G>A
  • NG_051363.1:g.79794C>T
  • NM_001256850.1:c.52539G>A
  • NM_001267550.2:c.57462G>AMANE SELECT
  • NM_003319.4:c.30267G>A
  • NM_133378.4:c.49758G>A
  • NM_133432.3:c.30642G>A
  • NM_133437.4:c.30843G>A
  • NP_001243779.1:p.Gln17513=
  • NP_001254479.2:p.Gln19154=
  • NP_003310.4:p.Gln10089=
  • NP_596869.4:p.Gln16586=
  • NP_597676.3:p.Gln10214=
  • NP_597681.4:p.Gln10281=
  • LRG_391:g.238183G>A
  • NC_000002.11:g.179462347C>T
  • NM_001267550.1:c.57462G>A
  • NR_038271.1:n.621C>T
  • NR_038272.1:n.3389C>T
  • c.49758G>A
  • p.Gln16586Gln
Links:
dbSNP: rs72646832
NCBI 1000 Genomes Browser:
rs72646832
Molecular consequence:
  • NR_038271.1:n.621C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_038272.1:n.3389C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256850.1:c.52539G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.57462G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.30267G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.49758G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.30642G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.30843G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
15

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
SCV000064084Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Apr 10, 2012)
germlineclinical testing

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

SCV000169302GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Mar 27, 2014)
germlineclinical testing

Citation Link,

SCV001478815Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Benign
(Jan 28, 2021)
germlineclinical testing

Citation Link,

SCV001879671Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)
Benign
(Jan 5, 2021)
unknownclinical testing

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

SCV001923220Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV001952535Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1515not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot 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, Mass General Brigham Personalized Medicine, SCV000064084.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided15not providednot providedclinical testing PubMed (1)

Description

Gln16586Gln in Exon 243 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 2.1% (66/3134) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72646832).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided15not provided15not provided

From GeneDx, SCV000169302.11

#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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001478815.1

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

From Athena Diagnostics, SCV001879671.1

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

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923220.1

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001952535.1

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

Last Updated: Sep 29, 2024