NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Mar 26, 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:: RCV000593097.10

Allele description [Variation Report for NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)]

NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)

HGVS:

NC_000002.12:g.178693930G>A
NG_011618.3:g.141873C>T
NM_001256850.1:c.30554C>T
NM_001267550.2:c.31505C>TMANE SELECT
NM_003319.4:c.13282+44152C>T
NM_133378.4:c.27773C>T
NM_133432.3:c.13657+44152C>T
NM_133437.4:c.13858+44152C>T
NP_001243779.1:p.Ser10185Leu
NP_001254479.2:p.Ser10502Leu
NP_596869.4:p.Ser9258Leu
LRG_391:g.141873C>T
NC_000002.11:g.179558657G>A

Protein change:

S10185L

Links:

dbSNP: rs768632287

NCBI 1000 Genomes Browser:

rs768632287

Molecular consequence:

NM_003319.4:c.13282+44152C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13657+44152C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13858+44152C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001256850.1:c.30554C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.31505C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.27773C>T - 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
SCV000701098	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Feb 28, 2017)	germline	clinical testing	Citation Link,
SCV000968573	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (May 7, 2018)	germline	clinical testing	Citation Link,
SCV003821049	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 26, 2020)	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

SCV000701098

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Feb 28, 2017)

germline

clinical testing

Citation Link,

SCV000968573

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(May 7, 2018)

germline

clinical testing

Citation Link,

SCV003821049

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 26, 2020)

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	2	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 Eurofins Ntd Llc (ga), SCV000701098.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From GeneDx, SCV000968573.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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, SCV003821049.2

#	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: Mar 16, 2024

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