NM_139343.3(BIN1):c.1267A>G (p.Thr423Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2024
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:: RCV004600283.1

Allele description [Variation Report for NM_139343.3(BIN1):c.1267A>G (p.Thr423Ala)]

NM_139343.3(BIN1):c.1267A>G (p.Thr423Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.3

Genomic location:

Preferred name:

NM_139343.3(BIN1):c.1267A>G (p.Thr423Ala)

HGVS:

NC_000002.12:g.127052359T>C
NG_012042.1:g.59930A>G
NM_001320632.2:c.955-1447A>G
NM_001320633.2:c.1003-1116A>G
NM_001320634.1:c.838-1447A>G
NM_001320640.2:c.1132-1116A>G
NM_001320641.2:c.1174A>G
NM_001320642.1:c.1186A>G
NM_004305.4:c.955-1116A>G
NM_139343.3:c.1267A>GMANE SELECT
NM_139344.3:c.1138A>G
NM_139345.3:c.1006A>G
NM_139346.3:c.1084-1116A>G
NM_139347.3:c.1042A>G
NM_139348.3:c.1039-1116A>G
NM_139349.3:c.913A>G
NM_139350.3:c.910-1116A>G
NM_139351.3:c.910-1447A>G
NP_001307570.1:p.Thr392Ala
NP_001307571.1:p.Thr396Ala
NP_647593.1:p.Thr423Ala
NP_647594.1:p.Thr380Ala
NP_647595.1:p.Thr336Ala
NP_647597.1:p.Thr348Ala
NP_647599.1:p.Thr305Ala
LRG_873t1:c.1267A>G
LRG_873:g.59930A>G
LRG_873p1:p.Thr423Ala
NC_000002.11:g.127809935T>C
NM_139343.2:c.1267A>G

Protein change:

T305A

Molecular consequence:

NM_001320632.2:c.955-1447A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320633.2:c.1003-1116A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320634.1:c.838-1447A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320640.2:c.1132-1116A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004305.4:c.955-1116A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_139346.3:c.1084-1116A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_139348.3:c.1039-1116A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_139350.3:c.910-1116A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_139351.3:c.910-1447A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320641.2:c.1174A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001320642.1:c.1186A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139343.3:c.1267A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139344.3:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139345.3:c.1006A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139347.3:c.1042A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_139349.3:c.913A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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
SCV005100037	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 15, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005100037

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 15, 2024)

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 Ambry Genetics, SCV005100037.1

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

Description

The c.1267A>G (p.T423A) alteration is located in exon 15 (coding exon 15) of the BIN1 gene. This alteration results from a A to G substitution at nucleotide position 1267, causing the threonine (T) at amino acid position 423 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Aug 11, 2024

ClinVar

Relating variation to medicine