NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) AND Feingold syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 17, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004813064.2

Allele description [Variation Report for NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)]

NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)

Genes:

LOC126806423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 [Gene]
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.67495C>T (p.Arg22499Ter)

HGVS:

NC_000002.12:g.178579702G>A
NG_011618.3:g.256101C>T
NG_051363.1:g.61876G>A
NM_001256850.1:c.62572C>T
NM_001267550.2:c.67495C>TMANE SELECT
NM_003319.4:c.40300C>T
NM_133378.4:c.59791C>T
NM_133432.3:c.40675C>T
NM_133437.4:c.40876C>T
NP_001243779.1:p.Arg20858Ter
NP_001254479.2:p.Arg22499Ter
NP_003310.4:p.Arg13434Ter
NP_596869.4:p.Arg19931Ter
NP_597676.3:p.Arg13559Ter
NP_597681.4:p.Arg13626Ter
LRG_391t1:c.67495C>T
LRG_391:g.256101C>T
NC_000002.11:g.179444429G>A
NM_001267550.1:c.67495C>T
NM_003319.4:c.40300C>T

Protein change:

R13434*

Links:

dbSNP: rs574660186

NCBI 1000 Genomes Browser:

rs574660186

Molecular consequence:

NM_001256850.1:c.62572C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001267550.2:c.67495C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003319.4:c.40300C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133378.4:c.59791C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133432.3:c.40675C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_133437.4:c.40876C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Feingold syndrome type 1 (FGLDS1)
Synonyms:: MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME; MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME; OCULODIGITOESOPHAGODUODENAL SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008115; MedGen: C4551774; Orphanet: 1305; Orphanet: 391641; OMIM: 164280

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005438192	Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 17, 2024)	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

SCV005438192

Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 17, 2024)

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	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 Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, SCV005438192.1

#	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

Last Updated: May 3, 2025

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