NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 15, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000322337.3

Allele description [Variation Report for NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)]

NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)

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.98743A>G (p.Ser32915Gly)
HGVS:
  • NC_000002.12:g.178539192T>C
  • NG_011618.3:g.296611A>G
  • NG_051363.1:g.21366T>C
  • NM_001256850.1:c.93820A>G
  • NM_001267550.2:c.98743A>GMANE SELECT
  • NM_003319.4:c.71548A>G
  • NM_133378.4:c.91039A>G
  • NM_133432.3:c.71923A>G
  • NM_133437.4:c.72124A>G
  • NP_001243779.1:p.Ser31274Gly
  • NP_001254479.2:p.Ser32915Gly
  • NP_003310.4:p.Ser23850Gly
  • NP_596869.4:p.Ser30347Gly
  • NP_597676.3:p.Ser23975Gly
  • NP_597681.4:p.Ser24042Gly
  • LRG_391:g.296611A>G
  • NC_000002.11:g.179403919T>C
  • NR_038272.1:n.1142T>C
  • p.Ser30347Gly
Protein change:
S23850G
Links:
dbSNP: rs760917372
NCBI 1000 Genomes Browser:
rs760917372
Molecular consequence:
  • NM_001256850.1:c.93820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.98743A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.71548A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.91039A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.71923A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.72124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.1142T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000332766EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 14, 2015)
germlineclinical testing

Citation Link,

SCV001714026Mayo Clinic Laboratories,Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Apr 15, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000332766.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories,Mayo Clinic, SCV001714026.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 2, 2021

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