GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 17, 2020
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:: RCV001259729.1

Allele description [Variation Report for GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1]

GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1

Genes:

DNAJC19:DnaJ heat shock protein family (Hsp40) member C19 [Gene - OMIM - HGNC]
FXR1:FMR1 autosomal homolog 1 [Gene - OMIM - HGNC]
GNB4:G protein subunit beta 4 [Gene - OMIM - HGNC]
NDUFB5:NADH:ubiquinone oxidoreductase subunit B5 [Gene - OMIM - HGNC]
SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]
ACTL6A:actin like 6A [Gene - OMIM - HGNC]
CCDC39:coiled-coil domain containing 39 [Gene - OMIM - HGNC]
MRPL47:mitochondrial ribosomal protein L47 [Gene - OMIM - HGNC]
MFN1:mitofusin 1 [Gene - OMIM - HGNC]
PEX5L:peroxisomal biogenesis factor 5 like [Gene - OMIM - HGNC]
TTC14:tetratricopeptide repeat domain 14 [Gene - HGNC]
USP13:ubiquitin specific peptidase 13 [Gene - OMIM - HGNC]
ZNF639:zinc finger protein 639 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

3q26.33

Genomic location:

Chr3: 179016729 - 181527320 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1

HGVS:

NC_000003.11:g.(?_179016729)_(181527320_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Homo sapiens mitotic arrest deficient 1 like 1 (MAD1L1), transcript variant 2, m...
Homo sapiens mitotic arrest deficient 1 like 1 (MAD1L1), transcript variant 2, mRNA
gi|62243368|ref|NM_001013836.1|

Nucleotide
Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 2 [Homo sapiens]
Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 2 [Homo sapiens]
gi|270483751|ref|NP_079067.3|

Protein
Grandidierina rubrocaudata isolate FGZC 2684 voucher ZSM:385/2005 12S ribosomal ...
Grandidierina rubrocaudata isolate FGZC 2684 voucher ZSM:385/2005 12S ribosomal RNA gene, partial sequence; mitochondrial
gi|815859776|gb|KM057106.1|

Nucleotide
MAG: hypothetical protein COT50_00905, partial [candidate division WWE3 bacteriu...
MAG: hypothetical protein COT50_00905, partial [candidate division WWE3 bacterium CG08_land_8_20_14_0_20_41_10]
gi|1277228899|gb|PIS22621.1||gnl|WG U|COT50_00905

Protein
MAG: cell division protein FtsZ [candidate division WWE3 bacterium CG08_land_8_2...
MAG: cell division protein FtsZ [candidate division WWE3 bacterium CG08_land_8_20_14_0_20_41_10]
gi|1277228903|gb|PIS22625.1||gnl|WG U|COT50_00925

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001436698	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Pathogenic (Apr 17, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001436698

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Pathogenic
(Apr 17, 2020)

germline

clinical testing

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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436698.1

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

Last Updated: Apr 23, 2022

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