NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 20, 2024
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:: RCV001079995.7

Allele description

NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)

HGVS:

NC_000002.12:g.178634452A>G
NG_011618.3:g.201351T>C
NM_001256850.1:c.37406T>C
NM_001267550.2:c.42329T>CMANE SELECT
NM_003319.4:c.15134T>C
NM_133378.4:c.34625T>C
NM_133432.3:c.15509T>C
NM_133437.4:c.15710T>C
NP_001243779.1:p.Val12469Ala
NP_001254479.2:p.Val14110Ala
NP_003310.4:p.Val5045Ala
NP_596869.4:p.Val11542Ala
NP_597676.3:p.Val5170Ala
NP_597681.4:p.Val5237Ala
LRG_391t1:c.42329T>C
LRG_391:g.201351T>C
NC_000002.11:g.179499179A>G
NM_001267550.1:c.42329T>C
c.34625T>C

Protein change:

V11542A

Links:

dbSNP: rs34706299

NCBI 1000 Genomes Browser:

rs34706299

Molecular consequence:

NM_001256850.1:c.37406T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.42329T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.15134T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.34625T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.15509T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.15710T>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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NFYC-AS1 NFYC antisense RNA 1 [Homo sapiens]
NFYC-AS1 NFYC antisense RNA 1 [Homo sapiens]
Gene ID:100130557

Gene
Gene Links for GEO Profiles (Select 65637409) (1)
Gene
Gene neighbors for Gene (Select 2316) (41)
Gene
C17orf67 chromosome 17 open reading frame 67 [Homo sapiens]
C17orf67 chromosome 17 open reading frame 67 [Homo sapiens]
Gene ID:339210

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000555444	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 20, 2024)	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

SCV000555444

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 20, 2024)

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 Invitae, SCV000555444.9

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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