NM_139343.3(BIN1):c.*479del AND not provided

Germline classification:: Uncertain significance (1 submission)
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:: RCV004694470.1

Allele description [Variation Report for NM_139343.3(BIN1):c.*479del]

NM_139343.3(BIN1):c.*479del

Gene:

BIN1:bridging integrator 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q14.3

Genomic location:

Preferred name:

NM_139343.3(BIN1):c.*479del

HGVS:

NC_000002.12:g.127048056del
NG_012042.1:g.64242del
NM_001320632.2:c.*479del
NM_001320633.2:c.*479del
NM_001320634.1:c.*479del
NM_001320640.2:c.*479del
NM_001320641.2:c.*479del
NM_001320642.1:c.*479del
NM_004305.4:c.*479del
NM_139343.3:c.*479delMANE SELECT
NM_139344.3:c.*479del
NM_139345.3:c.*479del
NM_139346.3:c.*479del
NM_139347.3:c.*479del
NM_139348.3:c.*479del
NM_139349.3:c.*479del
NM_139350.3:c.*479del
NM_139351.3:c.*479del
LRG_873t1:c.*479del
LRG_873:g.64242del
NC_000002.11:g.127805632del
NM_139343.2:c.*479delA

Links:

dbSNP: rs367627116

NCBI 1000 Genomes Browser:

rs367627116

Molecular consequence:

NM_001320632.2:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320633.2:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320634.1:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320640.2:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320641.2:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001320642.1:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004305.4:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139343.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139344.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139345.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139346.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139347.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139348.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139349.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139350.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139351.3:c.*479del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005187890	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005187890

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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	yes	not provided	not provided	not provided	not provided	not provided	not provided

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 Breakthrough Genomics, Breakthrough Genomics, SCV005187890.1

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

#	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: Aug 25, 2024

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