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NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002453684.9

Allele description [Variation Report for NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)]

NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)
Other names:
p.P1207T:CCT>ACT; p.Pro1207Thr
HGVS:
  • NC_000002.12:g.178780110G>T
  • NG_011618.3:g.55693C>A
  • NM_001256850.1:c.3619C>A
  • NM_001267550.2:c.3619C>AMANE SELECT
  • NM_003319.4:c.3481C>A
  • NM_133378.4:c.3619C>A
  • NM_133379.5:c.3619C>A
  • NM_133432.3:c.3481C>A
  • NM_133437.4:c.3481C>A
  • NP_001243779.1:p.Pro1207Thr
  • NP_001254479.2:p.Pro1207Thr
  • NP_003310.4:p.Pro1161Thr
  • NP_596869.4:p.Pro1207Thr
  • NP_596870.2:p.Pro1207Thr
  • NP_597676.3:p.Pro1161Thr
  • NP_597681.4:p.Pro1161Thr
  • LRG_391:g.55693C>A
  • NC_000002.11:g.179644837G>T
  • NM_003319.4:c.3481C>A
  • NM_133378.4:c.3619C>A
Protein change:
P1161T
Links:
dbSNP: rs373753003
NCBI 1000 Genomes Browser:
rs373753003
Molecular consequence:
  • NM_001256850.1:c.3619C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.3619C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.3481C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.3619C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.3619C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.3481C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.3481C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002614605Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 31, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002614605.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.P1161T variant (also known as c.3481C>A), located in coding exon 20 of the TTN gene, results from a C to A substitution at nucleotide position 3481. The proline at codon 1161 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024