NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2]) AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Oct 25, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000251606.11

Allele description [Variation Report for NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2])]

NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2])

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.1321_1359del (p.415_427SEPAPSPTTPEPT[2])

HGVS:

NC_000017.11:g.4933925_4933963del
NG_008767.2:g.6631_6669del
NM_000173.7:c.1321_1359delMANE SELECT
NP_000164.5:p.415_427SEPAPSPTTPEPT[2]
LRG_480t1:c.1321_1359del
LRG_480:g.6631_6669del
LRG_480p1:p.415_427SEPAPSPTTPEPT[2]
NC_000017.10:g.4837220_4837258del
NM_000173.5:c.1321_1359del39
NM_000173.6:c.1321_1359del

Links:

dbSNP: rs1259394995

NCBI 1000 Genomes Browser:

rs1259394995

Molecular consequence:

NM_000173.7:c.1321_1359del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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RNA polymerase b''-subunit, partial (chloroplast) [Actinostachys melanesica]
RNA polymerase b''-subunit, partial (chloroplast) [Actinostachys melanesica]
gi|2271302187|gb|UTM05676.1|

Protein
ribulose-1,5-bisphosphate carboxylase/oxygenase, partial (chloroplast) [Actinost...
ribulose-1,5-bisphosphate carboxylase/oxygenase, partial (chloroplast) [Actinostachys melanesica]
gi|2271302106|gb|UTM05642.1|

Protein
cytochrome b6/f complex subunit V (chloroplast) [Actinostachys digitata]
cytochrome b6/f complex subunit V (chloroplast) [Actinostachys digitata]
gi|2270351005|gb|UTJ90119.1|

Protein
Caecum glabrum voucher USNM:IZ:1616966 cytochrome oxidase subunit 1 (COI) gene, ...
Caecum glabrum voucher USNM:IZ:1616966 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|1914010842|gnl|uoguelph|HIMF171- I-5P|gb|MT999891.1|

Nucleotide
Pathogen: environmental/food/other sample from Salmonella enterica subsp. enteri...
Pathogen: environmental/food/other sample from Salmonella enterica subsp. enterica serovar Dublin

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000302856	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000595025	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Oct 25, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000302856

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000595025

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Oct 25, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000302856.1

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

#	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

From Genetic Services Laboratory, University of Chicago, SCV000595025.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 10, 2024

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