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NM_017679.5(BCAS3):c.1798A>G (p.Ile600Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2023
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:
RCV003252219.2

Allele description [Variation Report for NM_017679.5(BCAS3):c.1798A>G (p.Ile600Val)]

NM_017679.5(BCAS3):c.1798A>G (p.Ile600Val)

Genes:
BCAS3-AS1:BCAS3 antisense RNA 1 [Gene - HGNC]
BCAS3:BCAS3 microtubule associated cell migration factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_017679.5(BCAS3):c.1798A>G (p.Ile600Val)
HGVS:
  • NC_000017.11:g.61037924A>G
  • NM_001099432.3:c.1843A>G
  • NM_001320470.3:c.1798A>G
  • NM_001330413.2:c.1843A>G
  • NM_001330414.2:c.1798A>G
  • NM_001353144.2:c.1933A>G
  • NM_001353145.2:c.1888A>G
  • NM_001353146.2:c.1843A>G
  • NM_017679.5:c.1798A>GMANE SELECT
  • NP_001092902.1:p.Ile615Val
  • NP_001307399.1:p.Ile600Val
  • NP_001317342.1:p.Ile615Val
  • NP_001317343.1:p.Ile600Val
  • NP_001340073.1:p.Ile645Val
  • NP_001340074.1:p.Ile630Val
  • NP_001340075.1:p.Ile615Val
  • NP_060149.3:p.Ile600Val
  • NC_000017.10:g.59115285A>G
  • NM_001099432.1:c.1843A>G
Protein change:
I600V
Molecular consequence:
  • NM_001099432.3:c.1843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320470.3:c.1798A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330413.2:c.1843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330414.2:c.1798A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353144.2:c.1933A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353145.2:c.1888A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353146.2:c.1843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017679.5:c.1798A>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
SCV003940496Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 23, 2023) 		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, SCV003940496.2

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

Description

The c.1843A>G (p.I615V) alteration is located in exon 19 (coding exon 18) of the BCAS3 gene. This alteration results from a A to G substitution at nucleotide position 1843, causing the isoleucine (I) at amino acid position 615 to be replaced by a valine (V). 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: May 1, 2024