NM_001256850.1(TTN):c.94071delA (p.Lys31357Asnfs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 7, 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:: RCV000184328.2

Allele description

NM_001256850.1(TTN):c.94071delA (p.Lys31357Asnfs)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001256850.1(TTN):c.94071delA (p.Lys31357Asnfs)

HGVS:

NC_000002.12:g.178538835delT
NM_001256850.1:c.94071delA
NM_001267550.2:c.98994delA
NM_133378.4:c.91290delA
NP_001243779.1:p.Lys31357Asnfs
NP_001254479.2:p.Lys32998Asnfs
NP_596869.4:p.Lys30430Asnfs
LRG_391:g.296968del
NC_000002.11:g.179403562delT
p.K31357NfsX63
p.Lys30430AsnfsX63

Links:

dbSNP: rs727504535

NCBI 1000 Genomes Browser:

rs727504535

Molecular consequence:

NM_001267550.2:c.98994delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236953	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236953

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 7, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000236953.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

c.94071delA mutation in the TTN gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Lysine 31357, changing it to an Asparagine, and creating a premature stop codon at position 63 of the new reading frame, denoted p.Lys31357AsnfsX63. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense - mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman D et al., 2012). However, c.94071delA is located in the A - band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). The variant is found in DCM-CRDM panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 31, 2019

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