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NM_139343.3(BIN1):c.248A>G (p.Asn83Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 9, 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:
RCV004600284.1

Allele description [Variation Report for NM_139343.3(BIN1):c.248A>G (p.Asn83Ser)]

NM_139343.3(BIN1):c.248A>G (p.Asn83Ser)

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.248A>G (p.Asn83Ser)
HGVS:
  • NC_000002.12:g.127070620T>C
  • NG_012042.1:g.41669A>G
  • NM_001320632.2:c.248A>G
  • NM_001320633.2:c.248A>G
  • NM_001320634.1:c.176A>G
  • NM_001320640.2:c.248A>G
  • NM_001320641.2:c.248A>G
  • NM_001320642.1:c.167A>G
  • NM_004305.4:c.248A>G
  • NM_139343.3:c.248A>GMANE SELECT
  • NM_139344.3:c.248A>G
  • NM_139345.3:c.248A>G
  • NM_139346.3:c.248A>G
  • NM_139347.3:c.248A>G
  • NM_139348.3:c.248A>G
  • NM_139349.3:c.248A>G
  • NM_139350.3:c.248A>G
  • NM_139351.3:c.248A>G
  • NP_001307561.1:p.Asn83Ser
  • NP_001307562.1:p.Asn83Ser
  • NP_001307563.1:p.Asn59Ser
  • NP_001307569.1:p.Asn83Ser
  • NP_001307570.1:p.Asn83Ser
  • NP_001307571.1:p.Asn56Ser
  • NP_004296.1:p.Asn83Ser
  • NP_647593.1:p.Asn83Ser
  • NP_647594.1:p.Asn83Ser
  • NP_647595.1:p.Asn83Ser
  • NP_647596.1:p.Asn83Ser
  • NP_647597.1:p.Asn83Ser
  • NP_647598.1:p.Asn83Ser
  • NP_647599.1:p.Asn83Ser
  • NP_647600.1:p.Asn83Ser
  • NP_647601.1:p.Asn83Ser
  • LRG_873t1:c.248A>G
  • LRG_873:g.41669A>G
  • LRG_873p1:p.Asn83Ser
  • NC_000002.11:g.127828196T>C
  • NM_139343.2:c.248A>G
Protein change:
N56S
Molecular consequence:
  • NM_001320632.2:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320633.2:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320634.1:c.176A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320640.2:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320641.2:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320642.1:c.167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004305.4:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139343.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139344.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139345.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139346.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139347.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139348.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139349.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139350.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139351.3:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005100038Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 9, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005100038.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.248A>G (p.N83S) alteration is located in exon 4 (coding exon 4) of the BIN1 gene. This alteration results from a A to G substitution at nucleotide position 248, causing the asparagine (N) at amino acid position 83 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024