NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 2024
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:: RCV003987488.1

Allele description [Variation Report for NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)]

NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)

Genes:

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.106442A>G (p.Lys35481Arg)

HGVS:

NC_000002.12:g.178530049T>C
NG_011618.3:g.305754A>G
NG_051363.1:g.12223T>C
NM_001256850.1:c.101519A>G
NM_001267550.2:c.106442A>GMANE SELECT
NM_003319.4:c.79247A>G
NM_133378.4:c.98738A>G
NM_133432.3:c.79622A>G
NM_133437.4:c.79823A>G
NP_001243779.1:p.Lys33840Arg
NP_001254479.2:p.Lys35481Arg
NP_003310.4:p.Lys26416Arg
NP_596869.4:p.Lys32913Arg
NP_597676.3:p.Lys26541Arg
NP_597681.4:p.Lys26608Arg
LRG_391:g.305754A>G
NC_000002.11:g.179394776T>C
NM_003319.4:c.79247A>G

Protein change:

K26416R

Links:

dbSNP: rs200716018

NCBI 1000 Genomes Browser:

rs200716018

Molecular consequence:

NM_001256850.1:c.101519A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.106442A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.79247A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.98738A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.79622A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.79823A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004804101	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jan 3, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004804101

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jan 3, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004804101.1

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

Description

Variant summary: TTN c.98738A>G (p.Lys32913Arg) results in a conservative amino acid change located in the M-band domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 247170 control chromosomes. To our knowledge, no occurrence of c.98738A>G in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014, classifying the variant as uncertain significance (n=5) or likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 13, 2024

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