NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) AND not specified

Clinical significance:Likely benign (Last evaluated: May 28, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000040710.4

Allele description [Variation Report for NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)]

NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)

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.84923A>C (p.Gln28308Pro)
Other names:
p.Q26667P:CAA>CCA
HGVS:
  • NC_000002.12:g.178561209T>G
  • NG_011618.3:g.274594A>C
  • NG_051363.1:g.43383T>G
  • NM_001256850.1:c.80000A>C
  • NM_001267550.2:c.84923A>CMANE SELECT
  • NM_003319.4:c.57728A>C
  • NM_133378.4:c.77219A>C
  • NM_133432.3:c.58103A>C
  • NM_133437.4:c.58304A>C
  • NP_001243779.1:p.Gln26667Pro
  • NP_001254479.2:p.Gln28308Pro
  • NP_003310.4:p.Gln19243Pro
  • NP_596869.4:p.Gln25740Pro
  • NP_597676.3:p.Gln19368Pro
  • NP_597681.4:p.Gln19435Pro
  • LRG_391:g.274594A>C
  • NC_000002.11:g.179425936T>G
  • c.77219A>C
Protein change:
Q19243P
Links:
dbSNP: rs201674674
NCBI 1000 Genomes Browser:
rs201674674
Molecular consequence:
  • NM_001256850.1:c.80000A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.84923A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.57728A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.77219A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.58103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.58304A>C - 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
SCV000064401Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(May 28, 2014)
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, SCV000064401.6

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

Description

Gln25740Pro in exon 275 of TTN: This variant has been identified in 1/8250 Europ ean American chromosomes and 1/3832 African American chromosomes by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS/). It is not expected t o have clinical significance due to a lack of evolutionary conservation. Of note , 5 have a proline (Pro) at this position despite high nearby amino acid conserv ation, suggesting that this change is tolerated.

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

Last Updated: Nov 27, 2021

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