NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: May 14, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000220711.7

Allele description [Variation Report for NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)]

NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)

Genes:

LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [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.70651C>T (p.Leu23551=)

HGVS:

NC_000002.12:g.178575481G>A
NG_011618.3:g.260322C>T
NG_051363.1:g.57655G>A
NM_001256850.1:c.65728C>T
NM_001267550.2:c.70651C>TMANE SELECT
NM_003319.4:c.43456C>T
NM_133378.4:c.62947C>T
NM_133432.3:c.43831C>T
NM_133437.4:c.44032C>T
NP_001243779.1:p.Leu21910=
NP_001254479.2:p.Leu23551=
NP_003310.4:p.Leu14486=
NP_596869.4:p.Leu20983=
NP_597676.3:p.Leu14611=
NP_597681.4:p.Leu14678=
LRG_391:g.260322C>T
NC_000002.11:g.179440208G>A
NM_003319.4:c.43456C>T
NP_596869.4:p.(=)
p.Leu20983Leu

Links:

dbSNP: rs72646889

NCBI 1000 Genomes Browser:

rs72646889

Molecular consequence:

NM_001256850.1:c.65728C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001267550.2:c.70651C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003319.4:c.43456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133378.4:c.62947C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133432.3:c.43831C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133437.4:c.44032C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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neutrophil collagenase isoform 1 preproprotein [Homo sapiens]
neutrophil collagenase isoform 1 preproprotein [Homo sapiens]
gi|4505221|ref|NP_002415.1|

Protein
Atg13 AND (alive[prop]) (2146)
Gene
uridine kinase URK1 [Saccharomyces cerevisiae S288C]
uridine kinase URK1 [Saccharomyces cerevisiae S288C]
gi|6324339|ref|NP_014409.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000169347	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Apr 3, 2014)	germline	clinical testing	Citation Link,
SCV000271069	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (May 14, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000169347

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Apr 3, 2014)

germline

clinical testing

Citation Link,

SCV000271069

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(May 14, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	2	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From GeneDx, SCV000169347.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271069.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

Description

p.Leu20983Leu in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 22/66714 Europea n chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.or g/; dbSNP rs72646889).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	2	not provided

Last Updated: Aug 4, 2024

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