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NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:
Dec 14, 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:
RCV000724717.20

Allele description [Variation Report for NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)]

NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)

Genes:
LOC126806426:BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 [Gene]
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.49172G>A (p.Arg16391Gln)
Other names:
p.R14750Q:CGA>CAA
HGVS:
  • NC_000002.12:g.178614225C>T
  • NG_011618.3:g.221578G>A
  • NG_051363.1:g.96399C>T
  • NM_001256850.1:c.44249G>A
  • NM_001267550.2:c.49172G>AMANE SELECT
  • NM_003319.4:c.21977G>A
  • NM_133378.4:c.41468G>A
  • NM_133432.3:c.22352G>A
  • NM_133437.4:c.22553G>A
  • NP_001243779.1:p.Arg14750Gln
  • NP_001254479.2:p.Arg16391Gln
  • NP_003310.4:p.Arg7326Gln
  • NP_596869.4:p.Arg13823Gln
  • NP_597676.3:p.Arg7451Gln
  • NP_597681.4:p.Arg7518Gln
  • LRG_391t1:c.49172G>A
  • LRG_391:g.221578G>A
  • NC_000002.11:g.179478952C>T
  • NM_001267550.1:c.49172G>A
  • NM_003319.4:c.21977G>A
  • NR_038271.1:n.973C>T
  • Q8WZ42:p.Arg14750Gln
Protein change:
R13823Q
Links:
UniProtKB: Q8WZ42#VAR_074294; dbSNP: rs200944827
NCBI 1000 Genomes Browser:
rs200944827
Molecular consequence:
  • NM_001256850.1:c.44249G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.49172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.21977G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.41468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.22352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.22553G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038271.1:n.973C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
4

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
SCV000227866Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(May 16, 2017)
germlineclinical testing

Citation Link,

SCV000237244GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Oct 9, 2018)
germlineclinical testing

Citation Link,

SCV000884771ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Benign
(Sep 29, 2017)
germlineclinical testing

Citation Link,

SCV001146417Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Uncertain significance
(Jun 4, 2019)
germlineclinical testing

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

SCV003826702Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Dec 14, 2022)
germlineclinical 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 providedgermlineunknown4not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000227866.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From GeneDx, SCV000237244.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 30847666)

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884771.1

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

From Athena Diagnostics, SCV001146417.1

#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 Revvity Omics, Revvity, SCV003826702.2

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

Last Updated: Oct 13, 2024