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NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 4, 2022
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:
RCV002517580.2

Allele description [Variation Report for NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)]

NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)

Gene:
CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.1
Genomic location:
Preferred name:
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
HGVS:
  • NC_000003.12:g.41225785A>G
  • NG_013302.2:g.31335A>G
  • NM_001098209.2:c.860A>G
  • NM_001098210.2:c.860A>G
  • NM_001330729.2:c.839A>G
  • NM_001904.4:c.860A>GMANE SELECT
  • NP_001091679.1:p.Asn287Ser
  • NP_001091680.1:p.Asn287Ser
  • NP_001317658.1:p.Asn280Ser
  • NP_001895.1:p.Asn287Ser
  • LRG_1108t1:c.860A>G
  • LRG_1108:g.31335A>G
  • LRG_1108p1:p.Asn287Ser
  • NC_000003.11:g.41267276A>G
  • NM_001904.3:c.860A>G
Protein change:
N280S
Links:
dbSNP: rs35288908
NCBI 1000 Genomes Browser:
rs35288908
Molecular consequence:
  • NM_001098209.2:c.860A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001098210.2:c.860A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330729.2:c.839A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001904.4:c.860A>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
SCV003731571Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jul 4, 2022) 		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, SCV003731571.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 20, 2024