NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Dec 1, 2023
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:: RCV000713977.29

Allele description [Variation Report for NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)]

NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)

HGVS:

NC_000002.12:g.178732253T>C
NG_011618.3:g.103550A>G
NM_001256850.1:c.15765A>G
NM_001267550.2:c.16716A>GMANE SELECT
NM_003319.4:c.13282+5829A>G
NM_133378.4:c.12984A>G
NM_133432.3:c.13657+5829A>G
NM_133437.4:c.13858+5829A>G
NP_001243779.1:p.Pro5255=
NP_001254479.2:p.Pro5572=
NP_596869.4:p.Pro4328=
LRG_391t1:c.16716A>G
LRG_391:g.103550A>G
NC_000002.11:g.179596980T>C
NM_001267550.1:c.16716A>G

Links:

dbSNP: rs367821526

NCBI 1000 Genomes Browser:

rs367821526

Molecular consequence:

NM_003319.4:c.13282+5829A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133432.3:c.13657+5829A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_133437.4:c.13858+5829A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001256850.1:c.15765A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001267550.2:c.16716A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_133378.4:c.12984A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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SRX022569 (1)
SRA
putative glycosyltransferase involved in maturation of the outermost layer of th...
putative glycosyltransferase involved in maturation of the outermost layer of the spore [Bacillus subtilis subsp. subtilis str. 168]
gi|16079034|ref|NP_389857.1|

Protein
putative homing endonuclease F-LimI [Dickeya phage XF4]
putative homing endonuclease F-LimI [Dickeya phage XF4]
gi|1209831021|gb|ASD51448.1|

Protein
Gm11146 AND (alive[prop]) (0)
Gene
adrenoleukodystrophy-related protein [Homo sapiens]
adrenoleukodystrophy-related protein [Homo sapiens]
gi|4836439|gb|AAD30439.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000231359	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Apr 13, 2017)	germline	clinical testing	Citation Link,
SCV000732070	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 2, 2019)	germline	clinical testing	Citation Link,
SCV000844632	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (May 18, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003916208	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Dec 1, 2023)	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	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	6	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 Eurofins Ntd Llc (ga), SCV000231359.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

From GeneDx, SCV000732070.2

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

From Athena Diagnostics, SCV000844632.1

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV003916208.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	not provided

Description

TTN: BP4, BP7

#	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		6	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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