NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Sep 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621472.1

Allele description [Variation Report for NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)]

NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)

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.64720G>A (p.Ala21574Thr)
HGVS:
  • NC_000002.12:g.178584921C>T
  • NG_011618.3:g.250882G>A
  • NG_051363.1:g.67095C>T
  • NM_001256850.1:c.59797G>A
  • NM_001267550.2:c.64720G>AMANE SELECT
  • NM_003319.4:c.37525G>A
  • NM_133378.4:c.57016G>A
  • NM_133432.3:c.37900G>A
  • NM_133437.4:c.38101G>A
  • NP_001243779.1:p.Ala19933Thr
  • NP_001254479.2:p.Ala21574Thr
  • NP_003310.4:p.Ala12509Thr
  • NP_596869.4:p.Ala19006Thr
  • NP_597676.3:p.Ala12634Thr
  • NP_597681.4:p.Ala12701Thr
  • LRG_391t1:c.64720G>A
  • LRG_391:g.250882G>A
  • NC_000002.11:g.179449648C>T
  • NM_001267550.1:c.64720G>A
  • NR_038272.1:n.3116C>T
Protein change:
A12509T
Links:
dbSNP: rs578085621
NCBI 1000 Genomes Browser:
rs578085621
Molecular consequence:
  • NM_001256850.1:c.59797G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.64720G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.37525G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.57016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.37900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.38101G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.3116C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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
SCV000737168Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 15, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000737168.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.A12509T variant (also known as c.37525G>A), located in coding exon 137 of the TTN gene, results from a G to A substitution at nucleotide position 37525. The alanine at codon 12509 is replaced by threonine, an amino acid with similar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This variant was previously reported in the SNPDatabase as rs578085621. Based on data from ExAC, the A allele has an overall frequency of approximately 0.011% (11/104538). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

Support Center