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NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 30, 2021
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:
RCV002468448.1

Allele description [Variation Report for NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)]

NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)

Genes:
LOC126806431:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 [Gene]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)
HGVS:
  • NC_000002.12:g.178731890C>T
  • NG_011618.3:g.103913G>A
  • NG_082751.1:g.999C>T
  • NM_001256850.1:c.16034G>A
  • NM_001267550.2:c.16985G>AMANE SELECT
  • NM_003319.4:c.13282+6192G>A
  • NM_133378.4:c.13253G>A
  • NM_133432.3:c.13657+6192G>A
  • NM_133437.4:c.13858+6192G>A
  • NP_001243779.1:p.Gly5345Asp
  • NP_001254479.1:p.Gly5662Asp
  • NP_001254479.2:p.Gly5662Asp
  • NP_596869.4:p.Gly4418Asp
  • LRG_391t1:c.16985G>A
  • LRG_391:g.103913G>A
  • LRG_391p1:p.Gly5662Asp
  • NC_000002.11:g.179596617C>T
  • NM_001267550.1:c.16985G>A
Protein change:
G4418D
Molecular consequence:
  • NM_003319.4:c.13282+6192G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+6192G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+6192G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.16034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.16985G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.13253G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145
Name:
Hypertrophic cardiomyopathy 9
Synonyms:
Familial hypertrophic cardiomyopathy 9
Identifiers:
MONDO: MONDO:0013412; MedGen: C1861065; OMIM: 613765

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764291New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jul 30, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV002764291.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The heterozygous c.16985G>A (p.Gly5662Asp) missense variant in the TTN gene has been reported as a VUS in a cohort of adult patientswith left ventricular non-compaction phenotype [the total number of patients with this variant were not provided PMID: 30471092]. The variant has 0.00003287 allele frequency in the gnomAD (v3) database (5 out of 152128 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. The variant affects a conserved residue [Gly5662] located in the Ig-like 37 domain of TTN gene. The variant is predicted deleterious bymultiple In silico prediction tools (CADD score = 24.3, REVEL score = 0.536). Based on the available evidence, the heterozygous c.16985G>A (p.Gly5662Asp) missense variant identified in the TTN gene is reported as a Variant of Uncertain Significance.

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

Last Updated: Apr 15, 2024