NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) AND not provided

Germline classification:: Uncertain significance (2 submissions)
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:: RCV000087169.4

Allele description [Variation Report for NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)]

NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)

Gene:

ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)

Other names:

NM_000419.5(ITGA2B):c.798G>A; p.Trp266Ter

HGVS:

NC_000017.11:g.44384949C>T
NG_008331.1:g.9557G>A
NM_000419.5:c.798G>AMANE SELECT
NP_000410.2:p.Trp266Ter
LRG_479t1:c.798G>A
LRG_479:g.9557G>A
NC_000017.10:g.42462317C>T
NM_000419.3:c.798G>A

Protein change:

W266*

Links:

dbSNP: rs483352692

NCBI 1000 Genomes Browser:

rs483352692

Molecular consequence:

NM_000419.5:c.798G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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DUF1524 domain-containing protein [Escherichia sp. MR]
DUF1524 domain-containing protein [Escherichia sp. MR]
gi|1646401019|ref|WP_137326471.1|

Protein
primase-helicase zinc-binding domain-containing protein [Escherichia sp. MR]
primase-helicase zinc-binding domain-containing protein [Escherichia sp. MR]
gi|1646400498|ref|WP_137326330.1|

Protein
RecName: Full=Thyrostimulin beta-5 subunit; Flags: Precursor
RecName: Full=Thyrostimulin beta-5 subunit; Flags: Precursor
gi|1179881358|sp|A0A0F7YZI5.1|CTHB5 C

Protein
keratinocyte-associated transmembrane protein 2 precursor [Mus musculus]
keratinocyte-associated transmembrane protein 2 precursor [Mus musculus]
gi|58037541|ref|NP_694757.1|

Protein
Xanthomonas axonopodis pv. dieffenbachiae strain PD 4485 ATP synthase beta chain...
Xanthomonas axonopodis pv. dieffenbachiae strain PD 4485 ATP synthase beta chain (atpD) gene, partial cds
gi|748941298|gb|KJ491197.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000155134	Richard Lifton Laboratory, Yale University School of Medicine	no assertion criteria provided	unknown	somatic	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000155134

Richard Lifton Laboratory, Yale University School of Medicine

no assertion criteria provided

unknown

somatic

not provided

Description

ITGA2B:p.W266*: SCV000155134

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	2	not provided	literature only

Details of each submission

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000120031.1

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

Description

Converted during submission to Uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000155134.1

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

Description

Converted during submission to Uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000120031	Richard Lifton Laboratory, Yale University School of Medicine	flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV000120031 appears to be redundant with SCV000155134.	unknown	somatic	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000120031

Richard Lifton Laboratory, Yale University School of Medicine

flagged submission

Reason: This record appears to be redundant with a more recent record from the same submitter.

Notes: SCV000120031 appears to be redundant with SCV000155134.

unknown

somatic

not provided

Last Updated: Dec 9, 2023

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