NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC AND PHARC syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000322802.5

Allele description [Variation Report for NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC]

NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC

Genes:

LOC130065586:ATAC-STARR-seq lymphoblastoid silent region 12752 [Gene]
ABHD12:abhydrolase domain containing 12, lysophospholipase [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

20p11.21

Genomic location:

Preferred name:

NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC

HGVS:

NC_000020.11:g.25390746_25390747insCCGCCGCCT
NG_028119.1:g.5240_5241insGGCGGAGGC
NM_001042472.3:c.-40_-39insGGCGGAGGCMANE SELECT
NM_015600.5:c.-40_-39insGGCGGAGGC
NC_000020.10:g.25371382_25371383insCCGCCGCCT
NM_001042472.2:c.-40_-39insGGCGGAGGC

Links:

dbSNP: rs3833297

NCBI 1000 Genomes Browser:

rs3833297

Molecular consequence:

NM_001042472.3:c.-40_-39insGGCGGAGGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_015600.5:c.-40_-39insGGCGGAGGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:: PHARC syndrome
Synonyms:: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Identifiers:: MONDO: MONDO:0012984; MedGen: C2675204; Orphanet: 171848; OMIM: 612674

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000433240	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000433240

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000433240.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine