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NM_001267550.2(TTN):c.36267_36280+16del AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2022
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:
RCV003227885.8

Allele description [Variation Report for NM_001267550.2(TTN):c.36267_36280+16del]

NM_001267550.2(TTN):c.36267_36280+16del

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.36267_36280+16del
HGVS:
  • NC_000002.12:g.178664446_178664475del
  • NG_011618.3:g.171330_171359del
  • NM_001256850.1:c.34265-1418_34265-1389del
  • NM_001267550.2:c.36267_36280+16delMANE SELECT
  • NM_003319.4:c.13283-22156_13283-22127del
  • NM_133378.4:c.31484-1418_31484-1389del
  • NM_133432.3:c.13658-22156_13658-22127del
  • NM_133437.4:c.13859-22156_13859-22127del
  • LRG_391:g.171330_171359del
  • NC_000002.11:g.179529171_179529200del
  • NC_000002.11:g.179529173_179529202del
  • NM_133378.4:c.31484-1418_31484-1389del30
Links:
dbSNP: rs745871962
NCBI 1000 Genomes Browser:
rs745871962
Molecular consequence:
  • NM_001256850.1:c.34265-1418_34265-1389del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.13283-22156_13283-22127del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.31484-1418_31484-1389del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-22156_13658-22127del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-22156_13859-22127del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.36267_36280+16del - splice donor variant - [Sequence Ontology: SO:0001575]
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925349New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Apr 8, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV003925349.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.36267_36280+16del variant is a 30 base-pair (bps) deletion in the TTN gene which removes the last 14 nucleotides of exon 168 (of 363) and the first 16 nucleotides of the adjacent intron 168 (of 362) of the inferred complete meta-transcript. The deleted region includes the canonical splice-site of exon/intron 168 and is expected to alter the normal mRNA splicing of this inferred meta-transcript. However, this exon 168 of the inferred meta-transcript is not constitutively expressed in any of the TTN transcripts as indicated by a very low PSI (percentage spliced in) score which is an estimate of the percentage of TTN transcripts that incorporate agiven exon (https://www.cardiodb.org/titin/titin_transcripts.php). The c.36267_36280+16del variant has not been reported in affected individuals in the literature. The variant has 0.00009204 allele frequency in the gnomAD (v3.1.2) database (14 out of 152104 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. This variant is reported as a variant of uncertain significance in the ClinVar database (Variation ID:809022). Based on the available evidence, the c.36267_36280+16del 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: Nov 24, 2024