NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn) AND Sorsby fundus dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 2022
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:: RCV002251173.1

Allele description [Variation Report for NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn)]

NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn)

Genes:

TIMP3:TIMP metallopeptidase inhibitor 3 [Gene - OMIM - HGNC]
SYN3:synapsin III [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

22q12.3

Genomic location:

Preferred name:

NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn)

HGVS:

NC_000022.11:g.32859195_32859196insGTA
NG_009117.2:g.62491_62492insGTA
NG_029545.1:g.204195_204196insTAC
NG_029545.2:g.204185_204186insTAC
NM_000362.5:c.454_455insGTAMANE SELECT
NM_001135774.2:c.708+5719_708+5720insTAC
NM_001369907.1:c.711+5719_711+5720insTAC
NM_001369908.1:c.711+5719_711+5720insTAC
NM_001369909.1:c.708+5719_708+5720insTAC
NM_001369910.1:c.708+5719_708+5720insTAC
NM_003490.4:c.711+5719_711+5720insTACMANE SELECT
NM_133633.3:c.711+5719_711+5720insTAC
NP_000353.1:p.Tyr152delinsCysAsn
NC_000022.10:g.33255182_33255183insGTA

Links:

dbSNP: rs2146296204

NCBI 1000 Genomes Browser:

rs2146296204

Molecular consequence:

NM_000362.5:c.454_455insGTA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001135774.2:c.708+5719_708+5720insTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001369907.1:c.711+5719_711+5720insTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001369908.1:c.711+5719_711+5720insTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001369909.1:c.708+5719_708+5720insTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_001369910.1:c.708+5719_708+5720insTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_003490.4:c.711+5719_711+5720insTAC - intron variant - [Sequence Ontology: SO:0001627]
NM_133633.3:c.711+5719_711+5720insTAC - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Sorsby fundus dystrophy (SFD)
Synonyms:: Fundus dystrophy, pseudoinflammatory, of Sorsby; Macular dystrophy, hemorrhagic; Sorsby's pseudoinflammatory macular dystrophy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007640; MedGen: C1850938; Orphanet: 59181; OMIM: 136900

Recent activity

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Homo sapiens ankyrin repeat domain 17, mRNA (cDNA clone IMAGE:5532386), complete...
Homo sapiens ankyrin repeat domain 17, mRNA (cDNA clone IMAGE:5532386), complete cds
gi|27694395|gb|BC043394.1|

Nucleotide
alpha-1,3-galactosyltransferase 2 [Chlorocebus sabaeus]
alpha-1,3-galactosyltransferase 2 [Chlorocebus sabaeus]
gi|635112828|ref|XP_007979366.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002521652	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 22, 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

SCV002521652

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 22, 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	yes	1	not provided	not provided	1	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 3billion, SCV002521652.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. The variant has been observed in at least two similarly affected unrelated individuals (3billion dataset). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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