NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 22, 2024
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:: RCV001773637.5

Allele description [Variation Report for NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro)]

NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro)

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.104414G>C (p.Arg34805Pro)

HGVS:

NC_000002.12:g.178532201C>G
NG_011618.3:g.303602G>C
NG_051363.1:g.14375C>G
NM_001256850.1:c.99491G>C
NM_001267550.2:c.104414G>CMANE SELECT
NM_003319.4:c.77219G>C
NM_133378.4:c.96710G>C
NM_133432.3:c.77594G>C
NM_133437.4:c.77795G>C
NP_001243779.1:p.Arg33164Pro
NP_001254479.2:p.Arg34805Pro
NP_003310.4:p.Arg25740Pro
NP_596869.4:p.Arg32237Pro
NP_597676.3:p.Arg25865Pro
NP_597681.4:p.Arg25932Pro
LRG_391:g.303602G>C
NC_000002.11:g.179396928C>G
NM_001267550.1:c.104414G>C
NM_133378.4:c.96710G>C

Protein change:

R25740P

Links:

dbSNP: rs115150240

NCBI 1000 Genomes Browser:

rs115150240

Molecular consequence:

NM_001256850.1:c.99491G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.104414G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.77219G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.96710G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.77594G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.77795G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001993979	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 22, 2024)	germline	clinical testing	Citation Link,
SCV003821016	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 9, 2022)	germline	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

SCV001993979

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 22, 2024)

germline

clinical testing

Citation Link,

SCV003821016

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 9, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From GeneDx, SCV001993979.3

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

#	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, SCV003821016.2

#	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: Oct 8, 2024

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