NM_000430.4(PAFAH1B1):c.1002+100G>A AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 16, 2018
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:: RCV001552198.2

Allele description [Variation Report for NM_000430.4(PAFAH1B1):c.1002+100G>A]

NM_000430.4(PAFAH1B1):c.1002+100G>A

Gene:

PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

Preferred name:

NM_000430.4(PAFAH1B1):c.1002+100G>A

HGVS:

NC_000017.11:g.2676706G>A
NG_009799.1:g.88078G>A
NM_000430.4:c.1002+100G>AMANE SELECT
NC_000017.10:g.2580000G>A

Links:

dbSNP: rs116235430

NCBI 1000 Genomes Browser:

rs116235430

Molecular consequence:

NM_000430.4:c.1002+100G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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large ribosomal subunit protein bL19m [Homo sapiens]
large ribosomal subunit protein bL19m [Homo sapiens]
gi|94557305|ref|NP_055578.2|

Protein
Rattus norvegicus basic leucine zipper and W2 domains 2 (Bzw2), mRNA
Rattus norvegicus basic leucine zipper and W2 domains 2 (Bzw2), mRNA
gi|19705526|ref|NM_134402.1|

Nucleotide
protein ASPARTIC PROTEASE IN GUARD CELL 1 [Cucumis sativus]
protein ASPARTIC PROTEASE IN GUARD CELL 1 [Cucumis sativus]
gi|1784854961|ref|XP_004138237.3|

Protein
RING-H2 finger protein ATL66 [Cucumis sativus]
RING-H2 finger protein ATL66 [Cucumis sativus]
gi|449466637|ref|XP_004151032.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001772847	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Oct 16, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001772847

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Oct 16, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001772847.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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