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

Clinical significance:Benign/Likely benign (Last evaluated: Oct 28, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000041098.7

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]
Observations:
3

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
SCV000064789Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jan 24, 2012)
germlineclinical testing

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

SCV000333892EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Aug 21, 2015)
germlineclinical testing

Citation Link,

SCV000615988Athena Diagnostics Inccriteria provided, single submitter
Benign
(Oct 28, 2016)
germlineclinical testing

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

SCV001978898Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064789.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Asn4007His in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (12/3202) of African American c hromosomes by the NHLBI Exome Sequencing Project in a broad population (http://e vs.gs.washington.edu/EVS). Asn4007His in exon 45B of TTN (allele frequency = 0. 4%, 12/3202) **

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000333892.4

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

From Athena Diagnostics Inc, SCV000615988.1

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001978898.1

#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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