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NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) AND not specified

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Jun 7, 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:
RCV000156336.11

Allele description [Variation Report for NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)]

NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)

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.80115G>T (p.Glu26705Asp)
HGVS:
  • NC_000002.12:g.178566017C>A
  • NG_011618.3:g.269786G>T
  • NG_051363.1:g.48191C>A
  • NM_001256850.1:c.75192G>T
  • NM_001267550.2:c.80115G>TMANE SELECT
  • NM_003319.4:c.52920G>T
  • NM_133378.4:c.72411G>T
  • NM_133432.3:c.53295G>T
  • NM_133437.4:c.53496G>T
  • NP_001243779.1:p.Glu25064Asp
  • NP_001254479.2:p.Glu26705Asp
  • NP_003310.4:p.Glu17640Asp
  • NP_596869.4:p.Glu24137Asp
  • NP_597676.3:p.Glu17765Asp
  • NP_597681.4:p.Glu17832Asp
  • LRG_391:g.269786G>T
  • NC_000002.11:g.179430744C>A
  • NM_001267550.1:c.80115G>T
  • NM_003319.4:c.52920G>T
Protein change:
E17640D
Links:
dbSNP: rs558830502
NCBI 1000 Genomes Browser:
rs558830502
Molecular consequence:
  • NM_001256850.1:c.75192G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.80115G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.52920G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.72411G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.53295G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.53496G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000206054Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Mar 10, 2014)
germlineclinical testing

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

SCV000855146Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Likely benign
(Sep 14, 2018)
germlineclinical testing

Citation Link,

SCV001879706Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)
Benign
(Jun 7, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineunknown2not 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

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.

Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu P, Lv H, Zhang W, Yuan Y, Wang Z.

PLoS One. 2017;12(4):e0175343. doi: 10.1371/journal.pone.0175343.

PubMed [citation]
PMID:
28403181
PMCID:
PMC5389788
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206054.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Glu24137Asp in exon 275 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 4 mammals (antelope, cow, sheep, goat) have an aspartic acid (Asp) at this position despite high nearby amino acid conservation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Eurofins Ntd Llc (ga), SCV000855146.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Athena Diagnostics, SCV001879706.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024