NM_001267550.2(TTN):c.103687G>A (p.Val34563Met) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 1, 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:: RCV001508095.15

Allele description [Variation Report for NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)]

NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)

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.103687G>A (p.Val34563Met)

HGVS:

NC_000002.12:g.178532928C>T
NG_011618.3:g.302875G>A
NG_051363.1:g.15102C>T
NM_001256850.1:c.98764G>A
NM_001267550.2:c.103687G>AMANE SELECT
NM_003319.4:c.76492G>A
NM_133378.4:c.95983G>A
NM_133432.3:c.76867G>A
NM_133437.4:c.77068G>A
NP_001243779.1:p.Val32922Met
NP_001254479.2:p.Val34563Met
NP_003310.4:p.Val25498Met
NP_596869.4:p.Val31995Met
NP_597676.3:p.Val25623Met
NP_597681.4:p.Val25690Met
LRG_391:g.302875G>A
NC_000002.11:g.179397655C>T
NM_003319.4:c.76492G>A
p.Val32922Met

Protein change:

V25498M

Links:

dbSNP: rs369429739

NCBI 1000 Genomes Browser:

rs369429739

Molecular consequence:

NM_001256850.1:c.98764G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.103687G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.76492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.95983G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.76867G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.77068G>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
SCV001714018	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 18, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004150182	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Nov 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001714018

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 18, 2019)

germline

clinical testing

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

SCV004150182

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Uncertain significance
(Nov 1, 2022)

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	1	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 Mayo Clinic Laboratories, Mayo Clinic, SCV001714018.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV004150182.10

#	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

Last Updated: Oct 20, 2024

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