NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Nov 25, 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:: RCV000714084.10

Allele description [Variation Report for NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)]

NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)

Genes:

LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [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.70131A>G (p.Thr23377=)

HGVS:

NC_000002.12:g.178576001T>C
NG_011618.3:g.259802A>G
NG_051363.1:g.58175T>C
NM_001256850.1:c.65208A>G
NM_001267550.2:c.70131A>GMANE SELECT
NM_003319.4:c.42936A>G
NM_133378.4:c.62427A>G
NM_133432.3:c.43311A>G
NM_133437.4:c.43512A>G
NP_001243779.1:p.Thr21736=
NP_001254479.2:p.Thr23377=
NP_003310.4:p.Thr14312=
NP_596869.4:p.Thr20809=
NP_597676.3:p.Thr14437=
NP_597681.4:p.Thr14504=
LRG_391t1:c.70131A>G
LRG_391:g.259802A>G
NC_000002.11:g.179440728T>C
NM_001267550.1:c.70131A>G
NM_003319.4:c.42936A>G
p.Thr20809Thr

Links:

dbSNP: rs369503828

NCBI 1000 Genomes Browser:

rs369503828

Molecular consequence:

NM_001256850.1:c.65208A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001267550.2:c.70131A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003319.4:c.42936A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133378.4:c.62427A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133432.3:c.43311A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133437.4:c.43512A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000534865	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 25, 2020)	germline	clinical testing	Citation Link,
SCV000844751	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 14, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000861227	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (May 18, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000534865

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Nov 25, 2020)

germline

clinical testing

Citation Link,

SCV000844751

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Aug 14, 2018)

germline

clinical testing

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

SCV000861227

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(May 18, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000534865.5

#	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 Athena Diagnostics Inc, SCV000844751.1

#	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

From Eurofins Ntd Llc (ga), SCV000861227.1

#	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

Last Updated: Mar 16, 2024

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