NM_001267550.2(TTN):c.38876-2A>C AND Autosomal recessive limb-girdle muscular dystrophy type 2J

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 8, 2021
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:: RCV002281654.2

Allele description [Variation Report for NM_001267550.2(TTN):c.38876-2A>C]

NM_001267550.2(TTN):c.38876-2A>C

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.38876-2A>C

HGVS:

NC_000002.12:g.178652933T>G
NG_011618.3:g.182870A>C
NM_001256850.1:c.34523-392A>C
NM_001267550.2:c.38876-2A>CMANE SELECT
NM_003319.4:c.13283-10616A>C
NM_133378.4:c.31742-392A>C
NM_133432.3:c.13658-10616A>C
NM_133437.4:c.13859-10616A>C
LRG_391:g.182870A>C
NC_000002.11:g.179517660T>G
NM_133378.4:c.31742-392A>C

Links:

dbSNP: rs1185989004

NCBI 1000 Genomes Browser:

rs1185989004

Molecular consequence:

NM_001256850.1:c.34523-392A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.13283-10616A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.31742-392A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13658-10616A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13859-10616A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.38876-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002546541	Center of Excellence for Medical Genomics, Chulalongkorn University	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Sep 8, 2022)	paternal	research	PubMed (1) [See all records that cite this PMID]
SCV003915620	Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 8, 2021)	paternal	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

SCV002546541

Center of Excellence for Medical Genomics, Chulalongkorn University

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Sep 8, 2022)

paternal

research

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

SCV003915620

Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 8, 2021)

paternal

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	paternal	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	paternal	unknown	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 Center of Excellence for Medical Genomics, Chulalongkorn University, SCV002546541.1

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

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

From Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, SCV003915620.1

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

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

Last Updated: Nov 30, 2024

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