NM_000407.5(GP1BB):c.*11G>C AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 2023
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:: RCV003404912.1

Allele description [Variation Report for NM_000407.5(GP1BB):c.*11G>C]

NM_000407.5(GP1BB):c.*11G>C

Genes:

SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_000407.5(GP1BB):c.*11G>C

HGVS:

NC_000022.11:g.19724475G>C
NG_007974.1:g.5933G>C
NG_144920.1:g.933G>C
NM_000407.5:c.*11G>CMANE SELECT
LRG_478t1:c.*11G>C
LRG_478:g.5933G>C
NC_000022.10:g.19711998G>C
NM_000407.4:c.*11G>C
NR_037611.1:n.4372G>C
NR_037612.1:n.2876G>C

Molecular consequence:

NM_000407.5:c.*11G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_037611.1:n.4372G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037612.1:n.2876G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004122555	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Oct 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004122555

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Oct 6, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004122555.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Variant summary: GP1BB c.*11G>C is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.00034 in 145906 control chromosomes, predominantly at a frequency of 0.0029 within the African or African-American subpopulation in the gnomAD database, suggesting it may be a benign polymorphism found primarily within individuals of African ancestry. To our knowledge, no occurrence of c.*11G>C in individuals affected with Bernard Soulier Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

#	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: Jul 15, 2024

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