NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 17, 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:: RCV003808523.2

Allele description [Variation Report for NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)]

NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)

Genes:

LOC129935182:ATAC-STARR-seq lymphoblastoid active region 16807 [Gene]
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.106043A>C (p.Asn35348Thr)

HGVS:

NC_000002.12:g.178530572T>G
NG_011618.3:g.305231A>C
NG_051363.1:g.12746T>G
NG_168197.1:g.248T>G
NG_168198.1:g.28T>G
NM_001256850.1:c.101120A>C
NM_001267550.2:c.106043A>CMANE SELECT
NM_003319.4:c.78848A>C
NM_133378.4:c.98339A>C
NM_133432.3:c.79223A>C
NM_133437.4:c.79424A>C
NP_001243779.1:p.Asn33707Thr
NP_001254479.1:p.Asn35348Thr
NP_001254479.2:p.Asn35348Thr
NP_003310.4:p.Asn26283Thr
NP_596869.4:p.Asn32780Thr
NP_597676.3:p.Asn26408Thr
NP_597681.4:p.Asn26475Thr
LRG_391t1:c.106043A>C
LRG_391:g.305231A>C
LRG_391p1:p.Asn35348Thr
NC_000002.11:g.179395299T>G
NM_001267550.1:c.106043A>C

Protein change:

N26283T

Molecular consequence:

NM_001256850.1:c.101120A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.106043A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.78848A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.98339A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.79223A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.79424A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dilated cardiomyopathy 1G (CMD1G)
Identifiers:: MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

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

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Homo sapiens alcohol dehydrogenase 1 (class I), alpha polypeptide (ADH1) mRNA
Homo sapiens alcohol dehydrogenase 1 (class I), alpha polypeptide (ADH1) mRNA
gi|4501928|ref|NM_000667.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004591155	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 17, 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

SCV004591155

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 17, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004591155.1

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

Description

This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 35348 of the TTN protein (p.Asn35348Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TTN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of 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: Sep 29, 2024

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