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NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) AND multiple conditions

Germline classification:
Benign (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:
RCV001088150.15

Allele description

NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)

Genes:
LOC126806432:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 [Gene]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)
Other names:
p.C4831Y:TGC>TAC
HGVS:
  • NC_000002.12:g.178747908C>T
  • NG_011618.3:g.87895G>A
  • NM_001256850.1:c.10360+5216G>A
  • NM_001267550.2:c.11311+5216G>AMANE SELECT
  • NM_003319.4:c.10222+5216G>A
  • NM_133378.4:c.10360+5216G>A
  • NM_133379.5:c.14492G>A
  • NM_133432.3:c.10597+5216G>A
  • NM_133437.4:c.10798+5216G>A
  • NP_596870.2:p.Cys4831Tyr
  • LRG_391:g.87895G>A
  • NC_000002.11:g.179612635C>T
  • NM_133379.3:c.14492G>A
  • c.14492G>A
Protein change:
C4831Y
Links:
dbSNP: rs150615457
NCBI 1000 Genomes Browser:
rs150615457
Molecular consequence:
  • NM_001256850.1:c.10360+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.11311+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.10222+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.10360+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.10597+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.10798+5216G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133379.5:c.14492G>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000642634Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Aug 4, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV000642634.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024