GRCh37/hg19 16q24.3(chr16:89620873-89881041) AND Fanconi anemia complementation group A

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001535965.3

Allele description [Variation Report for GRCh37/hg19 16q24.3(chr16:89620873-89881041)]

GRCh37/hg19 16q24.3(chr16:89620873-89881041)

Genes:

FANCA:FA complementation group A [Gene - OMIM - HGNC]
SPG7:SPG7 matrix AAA peptidase subunit, paraplegin [Gene - OMIM - HGNC]
VPS9D1:VPS9 domain containing 1 [Gene - OMIM - HGNC]
CHMP1A:charged multivesicular body protein 1A [Gene - OMIM - HGNC]
CPNE7:copine 7 [Gene - OMIM - HGNC]
CDK10:cyclin dependent kinase 10 [Gene - OMIM - HGNC]
DPEP1:dipeptidase 1 [Gene - OMIM - HGNC]
RPL13:ribosomal protein L13 [Gene - OMIM - HGNC]
SPATA2L:spermatogenesis associated 2 like [Gene - HGNC]
SPATA33:spermatogenesis associated 33 [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

16q24.3

Genomic location:

Chr16: 89620873 - 89881041 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16q24.3(chr16:89620873-89881041)

HGVS:

NC_000016.9:g.(?_89620873)_(89881041_?)del

Condition(s)

Name:: Fanconi anemia complementation group A
Synonyms:: Fanconi anemia, group A
Identifiers:: MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

Recent activity

Clear Turn Off Turn On

nucleoside hydrolase [Arthrobacter humicola]
nucleoside hydrolase [Arthrobacter humicola]
gi|2730096997|ref|WP_344361704.1|

Protein
myoglobin [Rattus norvegicus]
myoglobin [Rattus norvegicus]
gi|11024650|ref|NP_067599.1|

Protein
Rasgrp1 RAS guanyl releasing protein 1 [Rattus norvegicus]
Rasgrp1 RAS guanyl releasing protein 1 [Rattus norvegicus]
Gene ID:29434

Gene

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
SCV001752629	Fulgent Genetics, Fulgent Genetics	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001752629

Fulgent Genetics, Fulgent Genetics

no assertion criteria provided

Pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV001752629.1

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 16q24.3(chr16:89620873-89881041) AND Fanconi anemia complementation group A

Allele description [Variation Report for GRCh37/hg19 16q24.3(chr16:89620873-89881041)]

GRCh37/hg19 16q24.3(chr16:89620873-89881041)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV001752629.1