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NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:
Dec 19, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV001508479.19

Allele description [Variation Report for NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)]

NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
Other names:
p.Y5696H:TAC>CAC
HGVS:
  • NC_000002.12:g.178730363A>G
  • NG_011618.3:g.105440T>C
  • NM_001256850.1:c.17086T>C
  • NM_001267550.2:c.18037T>CMANE SELECT
  • NM_003319.4:c.13282+7719T>C
  • NM_133378.4:c.14305T>C
  • NM_133432.3:c.13657+7719T>C
  • NM_133437.4:c.13858+7719T>C
  • NP_001243779.1:p.Tyr5696His
  • NP_001254479.2:p.Tyr6013His
  • NP_596869.4:p.Tyr4769His
  • LRG_391:g.105440T>C
  • NC_000002.11:g.179595090A>G
  • NM_001267550.1:c.18037T>C
  • p.Tyr4769His
Protein change:
Y4769H
Links:
dbSNP: rs548015673
NCBI 1000 Genomes Browser:
rs548015673
Molecular consequence:
  • NM_003319.4:c.13282+7719T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+7719T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+7719T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17086T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.18037T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.14305T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238247GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Oct 11, 2018)
germlineclinical testing

Citation Link,

SCV001714659Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Oct 9, 2019)
germlineclinical testing

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

SCV003819759Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 21, 2019)
germlineclinical testing

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

SCV004229374Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Uncertain significance
(Dec 19, 2022)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot 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

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 GeneDx, SCV000238247.8

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714659.1

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

From Revvity Omics, Revvity, SCV003819759.2

#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 Athena Diagnostics, SCV004229374.1

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

Description

Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024