NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2J

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 4, 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:: RCV005252818.2

Allele description [Variation Report for NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)]

NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)

Other names:

NM_001267550.2(TTN):c.38661_38665del; p.Lys12887fs

HGVS:

NC_000002.12:g.178653470TTTCT[1]
NG_011618.3:g.182325GAAAA[1]
NM_001256850.1:c.34523-932_34523-928del
NM_001267550.1:c.38661_38665del
NM_001267550.2:c.38661_38665delMANE SELECT
NM_003319.4:c.13283-11156_13283-11152del
NM_133378.4:c.31742-932_31742-928del
NM_133432.3:c.13658-11156_13658-11152del
NM_133437.4:c.13859-11156_13859-11152del
NP_001254479.2:p.Lys12887fs
LRG_391t1:c.38661_38665del
LRG_391:g.182325GAAAA[1]
NC_000002.11:g.179518197TTTCT[1]
NM_001267550.2:c.38661_38665del
NM_001267550.2:c.38661_38665delGAAAAMANE SELECT

Protein change:

K12887fs

Links:

dbSNP: rs1553775212

NCBI 1000 Genomes Browser:

rs1553775212

Molecular consequence:

NM_001267550.2:c.38661_38665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256850.1:c.34523-932_34523-928del - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.13283-11156_13283-11152del - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.31742-932_31742-928del - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13658-11156_13658-11152del - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13859-11156_13859-11152del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMDR10)
Synonyms:: Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
Identifiers:: MONDO: MONDO:0012127; MedGen: C1837342; Orphanet: 140922; OMIM: 608807

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005905161	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 4, 2023)	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

SCV005905161

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 4, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From 3billion, SCV005905161.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with TTN related disorder (ClinVar ID: VCV000226126). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

#	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: Apr 20, 2025

ClinVar

Relating variation to medicine