NM_001267550.2(TTN):c.97445T>C (p.Ile32482Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 11, 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:: RCV000724969.5

Allele description [Variation Report for NM_001267550.2(TTN):c.97445T>C (p.Ile32482Thr)]

NM_001267550.2(TTN):c.97445T>C (p.Ile32482Thr)

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.97445T>C (p.Ile32482Thr)

Other names:

p.I30841T:ATT>ACT; p.Ile30841Thr

HGVS:

NC_000002.12:g.178542311A>G
NG_011618.3:g.293492T>C
NG_051363.1:g.24485A>G
NM_001256850.1:c.92522T>C
NM_001267550.2:c.97445T>CMANE SELECT
NM_003319.4:c.70250T>C
NM_133378.4:c.89741T>C
NM_133432.3:c.70625T>C
NM_133437.4:c.70826T>C
NP_001243779.1:p.Ile30841Thr
NP_001254479.2:p.Ile32482Thr
NP_003310.4:p.Ile23417Thr
NP_596869.4:p.Ile29914Thr
NP_597676.3:p.Ile23542Thr
NP_597681.4:p.Ile23609Thr
LRG_391:g.293492T>C
NC_000002.11:g.179407038A>G
NR_038272.1:n.1993A>G

Protein change:

I23417T

Links:

dbSNP: rs773555433

NCBI 1000 Genomes Browser:

rs773555433

Molecular consequence:

NM_001256850.1:c.92522T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.97445T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.70250T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.89741T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.70625T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.70826T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_038272.1:n.1993A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000332815	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jul 17, 2015)	germline	clinical testing	Citation Link,
SCV004225781	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 11, 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

SCV000332815

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jul 17, 2015)

germline

clinical testing

Citation Link,

SCV004225781

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 11, 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	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), SCV000332815.4

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004225781.1

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

Description

BP4

#	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: Jan 6, 2024

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