NM_016729.3(FOLR1):c.321C>T (p.Tyr107=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 24, 2017
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:
RCV002316365.9

Allele description [Variation Report for NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)]

NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)

Gene:
FOLR1:folate receptor alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)
Other names:
p.Y107Y:TAC>TAT
HGVS:
  • NC_000011.10:g.72195423C>T
  • NG_015863.1:g.10866C>T
  • NM_000802.3:c.321C>T
  • NM_016724.3:c.321C>T
  • NM_016725.3:c.321C>T
  • NM_016729.3:c.321C>TMANE SELECT
  • NP_000793.1:p.Tyr107=
  • NP_057936.1:p.Tyr107=
  • NP_057937.1:p.Tyr107=
  • NP_057941.1:p.Tyr107=
  • NC_000011.9:g.71906467C>T
  • NM_016724.2:c.321C>T
  • NM_016725.2:c.321C>T
Links:
dbSNP: rs145674759
NCBI 1000 Genomes Browser:
rs145674759
Molecular consequence:
  • NM_000802.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016724.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016725.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016729.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000849504Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 24, 2017) 		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, SCV000849504.5

#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 3, 2024