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NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 22, 2017
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:
RCV000619087.11

Allele description [Variation Report for NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)]

NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)

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.72624A>G (p.Pro24208=)
Other names:
p.P22567P:CCA>CCG
HGVS:
  • NC_000002.12:g.178573508T>C
  • NG_011618.3:g.262295A>G
  • NG_051363.1:g.55682T>C
  • NM_001256850.1:c.67701A>G
  • NM_001267550.2:c.72624A>GMANE SELECT
  • NM_003319.4:c.45429A>G
  • NM_133378.4:c.64920A>G
  • NM_133432.3:c.45804A>G
  • NM_133437.4:c.46005A>G
  • NP_001243779.1:p.Pro22567=
  • NP_001254479.1:p.Pro24208=
  • NP_001254479.2:p.Pro24208=
  • NP_003310.4:p.Pro15143=
  • NP_596869.4:p.Pro21640=
  • NP_597676.3:p.Pro15268=
  • NP_597681.4:p.Pro15335=
  • LRG_391t1:c.72624A>G
  • LRG_391:g.262295A>G
  • LRG_391p1:p.Pro24208=
  • NC_000002.11:g.179438235T>C
  • NM_001267550.1:c.72624A>G
  • NM_133379.3:c.*172077A>G
  • NP_596869.4:p.(=)
  • c.64920A>G
  • p.Pro21640Pro
Links:
dbSNP: rs56293906
NCBI 1000 Genomes Browser:
rs56293906
Molecular consequence:
  • NM_001256850.1:c.67701A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.72624A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.45429A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.64920A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.45804A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.46005A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736772Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Feb 22, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000736772.5

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 8, 2024