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NM_001004758.1(OR51S1):c.905A>G (p.Lys302Arg) AND not specified

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:
RCV004294078.1

Allele description [Variation Report for NM_001004758.1(OR51S1):c.905A>G (p.Lys302Arg)]

NM_001004758.1(OR51S1):c.905A>G (p.Lys302Arg)

Genes:
MMP26:matrix metallopeptidase 26 [Gene - OMIM - HGNC]
OR51S1:olfactory receptor family 51 subfamily S member 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_001004758.1(OR51S1):c.905A>G (p.Lys302Arg)
HGVS:
  • NC_000011.10:g.4848304T>C
  • NM_001004758.1:c.905A>GMANE SELECT
  • NM_001384608.1:c.-153+80963T>C
  • NM_021801.5:c.-145+80963T>CMANE SELECT
  • NP_001004758.1:p.Lys302Arg
  • NC_000011.9:g.4869534T>C
Protein change:
K302R
Molecular consequence:
  • NM_001384608.1:c.-153+80963T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021801.5:c.-145+80963T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001004758.1:c.905A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003948618Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 23, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003948618.2

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

Description

The c.905A>G (p.K302R) alteration is located in exon 1 (coding exon 1) of the OR51S1 gene. This alteration results from a A to G substitution at nucleotide position 905, causing the lysine (K) at amino acid position 302 to be replaced by an arginine (R). 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 24, 2024