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NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 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:
RCV004701627.1

Allele description [Variation Report for NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp)]

NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp)

Genes:
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.98225G>A (p.Gly32742Asp)
HGVS:
  • NC_000002.12:g.178539840C>T
  • NG_011618.3:g.295963G>A
  • NG_051363.1:g.22014C>T
  • NM_001256850.1:c.93302G>A
  • NM_001267550.2:c.98225G>AMANE SELECT
  • NM_003319.4:c.71030G>A
  • NM_133378.4:c.90521G>A
  • NM_133432.3:c.71405G>A
  • NM_133437.4:c.71606G>A
  • NP_001243779.1:p.Gly31101Asp
  • NP_001254479.2:p.Gly32742Asp
  • NP_003310.4:p.Gly23677Asp
  • NP_596869.4:p.Gly30174Asp
  • NP_597676.3:p.Gly23802Asp
  • NP_597681.4:p.Gly23869Asp
  • LRG_391:g.295963G>A
  • NC_000002.11:g.179404567C>T
  • NM_133378.4:c.90521G>A
  • NR_038272.1:n.1790C>T
Protein change:
G23677D
Links:
dbSNP: rs201850303
NCBI 1000 Genomes Browser:
rs201850303
Molecular consequence:
  • NM_001256850.1:c.93302G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.98225G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.71030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.90521G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.71405G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.71606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.1790C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005203971Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Jun 24, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005203971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: TTN c.90521G>A (p.Gly30174Asp) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 248898 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.90521G>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 467703). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024