NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 16, 2023
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:: RCV003403482.1

Allele description [Variation Report for NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)]

NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)

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.83821G>A (p.Glu27941Lys)

HGVS:

NC_000002.12:g.178562311C>T
NG_011618.3:g.273492G>A
NG_051363.1:g.44485C>T
NM_001256850.1:c.78898G>A
NM_001267550.2:c.83821G>AMANE SELECT
NM_003319.4:c.56626G>A
NM_133378.4:c.76117G>A
NM_133432.3:c.57001G>A
NM_133437.4:c.57202G>A
NP_001243779.1:p.Glu26300Lys
NP_001254479.2:p.Glu27941Lys
NP_003310.4:p.Glu18876Lys
NP_596869.4:p.Glu25373Lys
NP_597676.3:p.Glu19001Lys
NP_597681.4:p.Glu19068Lys
LRG_391:g.273492G>A
NC_000002.11:g.179427038C>T
NM_001267550.1:c.83821G>A
NM_133378.4:c.76117G>A

Protein change:

E18876K

Links:

dbSNP: rs545954394

NCBI 1000 Genomes Browser:

rs545954394

Molecular consequence:

NM_001256850.1:c.78898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.83821G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.56626G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.76117G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.57001G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.57202G>A - 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
SCV004121702	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Oct 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004121702

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Oct 16, 2023)

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, SCV004121702.1

#	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.76117G>A (p.Glu25373Lys) results in a conservative amino acid change located in the A-band region of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 247758 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.76117G>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. 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: May 7, 2024

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