NM_000173.7(GP1BA):c.1292_1341del (p.Ala431fs) AND Bernard-Soulier syndrome, type A1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 26, 2023
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:: RCV003326184.2

Allele description [Variation Report for NM_000173.7(GP1BA):c.1292_1341del (p.Ala431fs)]

NM_000173.7(GP1BA):c.1292_1341del (p.Ala431fs)

Gene:

GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_000173.7(GP1BA):c.1292_1341del (p.Ala431fs)

HGVS:

NC_000017.11:g.4933896_4933945del
NG_008767.2:g.6602_6651del
NM_000173.7:c.1292_1341delMANE SELECT
NP_000164.5:p.Ala431fs
LRG_480t1:c.1292_1341del
LRG_480:g.6602_6651del
LRG_480p1:p.Ala431fs
NC_000017.10:g.4837191_4837240del

Protein change:

A431fs

Molecular consequence:

NM_000173.7:c.1292_1341del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Bernard-Soulier syndrome, type A1
Identifiers:: MedGen: C3278148

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
SCV004032234	Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH	no assertion criteria provided	Likely pathogenic (Jul 26, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004032234

Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH

no assertion criteria provided

Likely pathogenic
(Jul 26, 2023)

germline

clinical testing

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 Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH, SCV004032234.1

#	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: Sep 16, 2023

ClinVar

Relating variation to medicine