U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Nov 25, 2019
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:
RCV001528272.16

Allele description [Variation Report for NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)]

NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
Other names:
p.S7450S:TCC>TCT
HGVS:
  • NC_000002.12:g.178720461G>A
  • NG_011618.3:g.115342C>T
  • NM_001256850.1:c.22350C>T
  • NM_001267550.2:c.23301C>TMANE SELECT
  • NM_003319.4:c.13282+17621C>T
  • NM_133378.4:c.19569C>T
  • NM_133432.3:c.13657+17621C>T
  • NM_133437.4:c.13858+17621C>T
  • NP_001243779.1:p.Ser7450=
  • NP_001254479.1:p.Ser7767=
  • NP_001254479.2:p.Ser7767=
  • NP_596869.4:p.Ser6523=
  • LRG_391t1:c.23301C>T
  • LRG_391:g.115342C>T
  • LRG_391p1:p.Ser7767=
  • NC_000002.11:g.179585188G>A
  • NM_001267550.1:c.23301C>T
  • NM_001267550.1:c.23301C>T
  • NM_133379.3:c.*25124C>T
  • c.19569C>T
  • p.Ser6523Ser
Links:
dbSNP: rs73038337
NCBI 1000 Genomes Browser:
rs73038337
Molecular consequence:
  • NM_003319.4:c.13282+17621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+17621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+17621C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.22350C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.23301C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.19569C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV001472260ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Benign
(Nov 25, 2019)
germlineclinical testing

Citation Link,

SCV001739727Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001969867Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472260.1

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001739727.3

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001969867.1

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

Last Updated: Sep 29, 2024