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NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) AND SUDDEN INFANT DEATH SYNDROME

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2021
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:
RCV001787842.10

Allele description [Variation Report for NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)]

NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
Other names:
NM_001267550.2(TTN):c.98299_98300del; p.Arg32767fs
HGVS:
  • NC_000002.12:g.178539765_178539766del
  • NG_011618.3:g.296037_296038del
  • NG_051363.1:g.21939_21940del
  • NM_001256850.1:c.93376_93377del
  • NM_001267550.2:c.98299_98300delMANE SELECT
  • NM_003319.4:c.71104_71105del
  • NM_133432.3:c.71479_71480del
  • NM_133437.4:c.71680_71681del
  • NP_001243779.1:p.Arg31126fs
  • NP_001254479.2:p.Arg32767fs
  • NP_003310.4:p.Arg23702fs
  • NP_597676.3:p.Arg23827fs
  • NP_597681.4:p.Arg23894fs
  • LRG_391t1:c.98299_98300del
  • LRG_391:g.296037_296038del
  • NC_000002.11:g.179404492_179404493del
  • NC_000002.11:g.179404492_179404493delCT
  • NC_000002.12:g.178539765_178539766delCT
  • NM_001256850.1:c.93376_93377del
  • NM_001256850.1:c.93376_93377delAG
  • NM_001267550.1:c.98299_98300del
  • NM_001267550.1:c.98299_98300delAG
  • NM_001267550.2:c.98299_98300delAGMANE SELECT
  • NM_133378.4:c.90595_90596delAG
  • NR_038272.1:n.1715_1716del
  • c.90595_90596delAG
  • p.Arg30199GlyfsX2
Protein change:
R23702fs
Links:
dbSNP: rs397517776
NCBI 1000 Genomes Browser:
rs397517776
Molecular consequence:
  • NM_001256850.1:c.93376_93377del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001267550.2:c.98299_98300del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003319.4:c.71104_71105del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133432.3:c.71479_71480del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133437.4:c.71680_71681del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_038272.1:n.1715_1716del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
SUDDEN INFANT DEATH SYNDROME (SIDS)
Synonyms:
Sudden Infant Death
Identifiers:
EFO: EFO_0005303; MeSH: D013398; MedGen: C0038644; OMIM: 272120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002030074Robert's Program, Boston Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 1, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Robert's Program, Boston Children's Hospital, SCV002030074.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

We classify this variant as pathogenic using the following ACMG/AMP criteria: PVS1, PM1, PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 13, 2025