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NM_017506.2(OR7A5):c.305A>G (p.Tyr102Cys) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 1, 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:
RCV004354668.1

Allele description [Variation Report for NM_017506.2(OR7A5):c.305A>G (p.Tyr102Cys)]

NM_017506.2(OR7A5):c.305A>G (p.Tyr102Cys)

Genes:
OR7A5:olfactory receptor family 7 subfamily A member 5 [Gene - HGNC]
OR7C1:olfactory receptor family 7 subfamily C member 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_017506.2(OR7A5):c.305A>G (p.Tyr102Cys)
HGVS:
  • NC_000019.10:g.14827937T>C
  • NM_001370480.1:c.305A>G
  • NM_001370481.1:c.305A>G
  • NM_001370482.1:c.305A>G
  • NM_001370483.1:c.305A>G
  • NM_001370485.4:c.-623+7137A>GMANE SELECT
  • NM_017506.2:c.305A>GMANE SELECT
  • NP_001357409.1:p.Tyr102Cys
  • NP_001357410.1:p.Tyr102Cys
  • NP_001357411.1:p.Tyr102Cys
  • NP_001357412.1:p.Tyr102Cys
  • NP_059976.1:p.Tyr102Cys
  • NC_000019.9:g.14938749T>C
  • NM_017506.1:c.305A>G
Protein change:
Y102C
Molecular consequence:
  • NM_001370485.4:c.-623+7137A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370480.1:c.305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370481.1:c.305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370482.1:c.305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370483.1:c.305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017506.2:c.305A>G - 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
SCV004084160Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 1, 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, SCV004084160.2

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

Description

This alteration is classified as likely 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: Nov 10, 2024