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NM_032735.3(BEST3):c.254A>C (p.Tyr85Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 2021
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:
RCV004093727.1

Allele description [Variation Report for NM_032735.3(BEST3):c.254A>C (p.Tyr85Ser)]

NM_032735.3(BEST3):c.254A>C (p.Tyr85Ser)

Gene:
BEST3:bestrophin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q15
Genomic location:
Preferred name:
NM_032735.3(BEST3):c.254A>C (p.Tyr85Ser)
HGVS:
  • NC_000012.12:g.69693901T>G
  • NM_001282613.2:c.-65A>C
  • NM_001282614.2:c.254A>C
  • NM_001282615.2:c.-65A>C
  • NM_001282616.2:c.-65A>C
  • NM_032735.3:c.254A>CMANE SELECT
  • NP_001269543.1:p.Tyr85Ser
  • NP_116124.2:p.Tyr85Ser
  • NC_000012.11:g.70087681T>G
  • NM_032735.2:c.254A>C
Protein change:
Y85S
Molecular consequence:
  • NM_001282613.2:c.-65A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282615.2:c.-65A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282616.2:c.-65A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282614.2:c.254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032735.3:c.254A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003562102Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 9, 2021) 		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, SCV003562102.2

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

Description

The c.254A>C (p.Y85S) alteration is located in exon 4 (coding exon 3) of the BEST3 gene. This alteration results from a A to C substitution at nucleotide position 254, causing the tyrosine (Y) at amino acid position 85 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: Oct 26, 2024