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NM_001004750.1(OR51B6):c.359G>A (p.Cys120Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 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:
RCV004646435.1

Allele description [Variation Report for NM_001004750.1(OR51B6):c.359G>A (p.Cys120Tyr)]

NM_001004750.1(OR51B6):c.359G>A (p.Cys120Tyr)

Genes:
OR51B5:olfactory receptor family 51 subfamily B member 5 [Gene - HGNC]
OR51B6:olfactory receptor family 51 subfamily B member 6 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_001004750.1(OR51B6):c.359G>A (p.Cys120Tyr)
HGVS:
  • NC_000011.10:g.5351866G>A
  • NM_001004750.1:c.359G>AMANE SELECT
  • NM_001005567.3:c.-359-4956C>T
  • NP_001004750.1:p.Cys120Tyr
  • NC_000011.9:g.5373096G>A
Protein change:
C120Y
Molecular consequence:
  • NM_001005567.3:c.-359-4956C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001004750.1:c.359G>A - 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
SCV005139630Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 24, 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, SCV005139630.1

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

Description

The c.359G>A (p.C120Y) alteration is located in exon 1 (coding exon 1) of the OR51B6 gene. This alteration results from a G to A substitution at nucleotide position 359, causing the cysteine (C) at amino acid position 120 to be replaced by a tyrosine (Y). 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: Nov 3, 2024