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NM_001267550.2(TTN):c.48783T>C (p.Asp16261=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2023
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:
RCV003302942.9

Allele description [Variation Report for NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)]

NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)

Genes:
LOC126806426:BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 [Gene]
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.48783T>C (p.Asp16261=)
HGVS:
  • NC_000002.12:g.178614731A>G
  • NG_011618.3:g.221072T>C
  • NG_051363.1:g.96905A>G
  • NM_001256850.1:c.43860T>C
  • NM_001267550.2:c.48783T>CMANE SELECT
  • NM_003319.4:c.21588T>C
  • NM_133378.4:c.41079T>C
  • NM_133432.3:c.21963T>C
  • NM_133437.4:c.22164T>C
  • NP_001243779.1:p.Asp14620=
  • NP_001254479.2:p.Asp16261=
  • NP_003310.4:p.Asp7196=
  • NP_596869.4:p.Asp13693=
  • NP_597676.3:p.Asp7321=
  • NP_597681.4:p.Asp7388=
  • LRG_391t1:c.48783T>C
  • LRG_391:g.221072T>C
  • NC_000002.11:g.179479458A>G
  • NM_001267550.1:c.48783T>C
  • NM_003319.4:c.21588T>C
  • NR_038271.1:n.1479A>G
Links:
dbSNP: rs574915586
NCBI 1000 Genomes Browser:
rs574915586
Molecular consequence:
  • NR_038271.1:n.1479A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256850.1:c.43860T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.48783T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.21588T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.41079T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.21963T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.22164T>C - 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
SCV003999508Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 27, 2023) 		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, SCV003999508.2

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

Description

This alteration is classified as likely 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: Nov 24, 2024