NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Jan 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000727333.4

Allele description [Variation Report for NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)]

NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)

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.72001G>A (p.Ala24001Thr)
Other names:
p.A21433T:GCC>ACC
HGVS:
  • NC_000002.12:g.178574131C>T
  • NG_011618.3:g.261672G>A
  • NG_051363.1:g.56305C>T
  • NM_001256850.1:c.67078G>A
  • NM_001256850.1:c.67078G>A
  • NM_001267550.2:c.72001G>AMANE SELECT
  • NM_001267550.2:c.72001G>AMANE SELECT
  • NM_003319.4:c.44806G>A
  • NM_133378.4:c.64297G>A
  • NM_133378.4:c.64297G>A
  • NM_133432.3:c.45181G>A
  • NM_133437.4:c.45382G>A
  • NP_001243779.1:p.Ala22360Thr
  • NP_001243779.1:p.Ala22360Thr
  • NP_001254479.2:p.Ala24001Thr
  • NP_001254479.2:p.Ala24001Thr
  • NP_003310.4:p.Ala14936Thr
  • NP_596869.4:p.Ala21433Thr
  • NP_596869.4:p.Ala21433Thr
  • NP_597676.3:p.Ala15061Thr
  • NP_597681.4:p.Ala15128Thr
  • LRG_391:g.261672G>A
  • NC_000002.11:g.179438858C>T
  • NC_000002.11:g.179438858C>T
  • NM_133379.3:c.*171454G>A
Protein change:
A14936T
Links:
dbSNP: rs180828370
NCBI 1000 Genomes Browser:
rs180828370
Molecular consequence:
  • NM_001256850.1:c.67078G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.72001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.44806G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.64297G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.45181G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.45382G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000236783GeneDxcriteria provided, single submitter
Likely benign
(Jan 17, 2020)
germlineclinical testing

Citation Link,

SCV000707603EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Dec 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000236783.10

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000707603.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 4, 2021

Support Center