NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 14, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000762302.25

Allele description [Variation Report for NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)]

NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)

HGVS:

NC_000002.12:g.178757566C>G
NG_011618.3:g.78237G>C
NM_001256850.1:c.10303+1418G>C
NM_001267550.2:c.10654G>CMANE SELECT
NM_003319.4:c.10165+1418G>C
NM_133378.4:c.10303+1418G>C
NM_133379.5:c.10303+1418G>C
NM_133432.3:c.10516G>C
NM_133437.4:c.10166-769G>C
NP_001254479.2:p.Ala3552Pro
NP_597676.3:p.Ala3506Pro
LRG_391:g.78237G>C
NC_000002.11:g.179622293C>G
NM_001267550.1:c.10654G>C

Protein change:

A3506P

Links:

dbSNP: rs774004409

NCBI 1000 Genomes Browser:

rs774004409

Molecular consequence:

NM_001256850.1:c.10303+1418G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_003319.4:c.10165+1418G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133378.4:c.10303+1418G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133379.5:c.10303+1418G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.10166-769G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001267550.2:c.10654G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.10516G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000892606	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Apr 1, 2018)	germline	clinical testing	Citation Link,
SCV004229370	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Dec 14, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000892606

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Apr 1, 2018)

germline

clinical testing

Citation Link,

SCV004229370

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Dec 14, 2022)

unknown

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	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

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000892606.28

#	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Athena Diagnostics, SCV004229370.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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). This variant is in a coding region of the longest isoform of TTN, inferred model NM_001267550.1, however, it is in a non-coding region of the main skeletal and cardiac muscle isoforms of TTN.

#	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

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine