NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Dec 8, 2020
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:: RCV000370129.15

Allele description [Variation Report for NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)]

NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)

Genes:

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.49871G>A (p.Arg16624Gln)

HGVS:

NC_000002.12:g.178612850C>T
NG_011618.3:g.222953G>A
NG_051363.1:g.95024C>T
NM_001256850.1:c.44948G>A
NM_001267550.2:c.49871G>AMANE SELECT
NM_003319.4:c.22676G>A
NM_133378.4:c.42167G>A
NM_133432.3:c.23051G>A
NM_133437.4:c.23252G>A
NP_001243779.1:p.Arg14983Gln
NP_001254479.2:p.Arg16624Gln
NP_003310.4:p.Arg7559Gln
NP_596869.4:p.Arg14056Gln
NP_597676.3:p.Arg7684Gln
NP_597681.4:p.Arg7751Gln
LRG_391t1:c.49871G>A
LRG_391:g.222953G>A
NC_000002.11:g.179477577C>T
NM_001267550.1:c.49871G>A
NM_003319.4:c.22676G>A
NM_133378.4:c.42167G>A

Protein change:

R14056Q

Links:

dbSNP: rs367566671

NCBI 1000 Genomes Browser:

rs367566671

Molecular consequence:

NM_001256850.1:c.44948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.49871G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.22676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.42167G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.23051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.23252G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000335584	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Sep 22, 2015)	germline	clinical testing	Citation Link,
SCV001146419	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely benign (Jun 25, 2020)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001793213	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 8, 2020)	germline	clinical testing	Citation Link,
SCV003819704	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 14, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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), SCV000335584.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Athena Diagnostics, SCV001146419.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001793213.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003819704.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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