NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) AND not provided

Clinical significance:Likely benign (Last evaluated: Mar 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001703922.2

Allele description [Variation Report for NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)]

NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
Other names:
p.N3928H:AAC>CAC
HGVS:
  • NC_000002.12:g.178740500T>G
  • NG_011618.3:g.95303A>C
  • NM_001256850.1:c.11782A>C
  • NM_001267550.2:c.12733A>CMANE SELECT
  • NM_003319.4:c.11644A>C
  • NM_133378.4:c.10361-2140A>C
  • NM_133432.3:c.12019A>C
  • NM_133437.4:c.12220A>C
  • NP_001243779.1:p.Asn3928His
  • NP_001254479.2:p.Asn4245His
  • NP_003310.4:p.Asn3882His
  • NP_597676.3:p.Asn4007His
  • NP_597681.4:p.Asn4074His
  • LRG_391t1:c.12733A>C
  • LRG_391:g.95303A>C
  • NC_000002.11:g.179605227T>G
  • NM_001267550.1:c.12733A>C
  • c.12019A>C
Protein change:
N3882H
Links:
dbSNP: rs199652066
NCBI 1000 Genomes Browser:
rs199652066
Molecular consequence:
  • NM_133378.4:c.10361-2140A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.11782A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.12733A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.11644A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.12019A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.12220A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238179GeneDxcriteria provided, single submitter
Likely benign
(Mar 16, 2020)
germlineclinical testing

Citation Link,

SCV001979830Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238179.3

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001979830.1

#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: Nov 27, 2021

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