NM_001267550.2(TTN):c.15561G>T (p.Leu5187=) AND Autosomal recessive limb-girdle muscular dystrophy type 2J

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 10, 2021
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:: RCV000577965.3

Allele description [Variation Report for NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)]

NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)

HGVS:

NC_000002.12:g.178733828C>A
NG_011618.3:g.101975G>T
NM_001256850.1:c.14610G>T
NM_001267550.2:c.15561G>TMANE SELECT
NM_003319.4:c.13282+4254G>T
NM_133378.4:c.11829G>T
NM_133432.3:c.13657+4254G>T
NM_133437.4:c.13858+4254G>T
NP_001243779.1:p.Leu4870=
NP_001254479.2:p.Leu5187=
NP_596869.4:p.Leu3943=
LRG_391:g.101975G>T
NC_000002.11:g.179598555C>A
NM_001267550.2:c.15561G>T

Links:

dbSNP: rs779159076

NCBI 1000 Genomes Browser:

rs779159076

Molecular consequence:

NM_003319.4:c.13282+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13657+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13858+4254G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001256850.1:c.14610G>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001267550.2:c.15561G>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133378.4:c.11829G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

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
SCV000679952	Phosphorus, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 1, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24033266, 25741868
SCV002100078	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 10, 2021)	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

SCV000679952

Phosphorus, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 1, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002100078

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 10, 2021)

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	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

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 Phosphorus, Inc., SCV000679952.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (2)

#	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		3	not provided	not provided	not provided

From Genome-Nilou Lab, SCV002100078.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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