11-72139110-CTA-CTATA

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP6_Moderate

The NM_000804.4(FOLR3):​c.320_321dupAT​(p.Glu108MetfsTer24) variant causes a frameshift change involving the alteration of a conserved nucleotide. Variant has been reported in ClinVar as Benign (★). Variant results in nonsense mediated mRNA decay.

Frequency

Genomes: not found (cov: 0)

Consequence

FOLR3
NM_000804.4 frameshift

Scores

Not classified

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 7.80
Variant links:
Genes affected
FOLR3 (HGNC:3795): (folate receptor gamma) This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

BP6
Variant 11-72139110-C-CTA is Benign according to our data. Variant chr11-72139110-C-CTA is described in ClinVar as [Benign]. Clinvar id is 3035533.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
FOLR3NM_000804.4 linkc.320_321dupAT p.Glu108MetfsTer24 frameshift_variant Exon 3 of 5 ENST00000611028.3 NP_000795.2 P41439-1
FOLR3NR_178088.1 linkn.498_499dupAT non_coding_transcript_exon_variant Exon 3 of 5

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
FOLR3ENST00000611028.3 linkc.320_321dupAT p.Glu108MetfsTer24 frameshift_variant Exon 3 of 5 1 NM_000804.4 ENSP00000481114.1 P41439-1
FOLR3ENST00000612844.4 linkn.448_449dupAT non_coding_transcript_exon_variant Exon 3 of 5 1 ENSP00000481027.1 P41439-4
FOLR3ENST00000622388.4 linkc.320_321dupAT p.Glu108MetfsTer24 frameshift_variant Exon 4 of 6 5 ENSP00000481833.1 A0A087WYI3

Frequencies

GnomAD3 genomes
Cov.:
0
GnomAD3 exomes
AF:
0.0829
AC:
20748
AN:
250286
Hom.:
1167
AF XY:
0.0792
AC XY:
10729
AN XY:
135428
show subpopulations
Gnomad AFR exome
AF:
0.244
Gnomad AMR exome
AF:
0.0518
Gnomad ASJ exome
AF:
0.0707
Gnomad EAS exome
AF:
0.0754
Gnomad SAS exome
AF:
0.0499
Gnomad FIN exome
AF:
0.119
Gnomad NFE exome
AF:
0.0741
Gnomad OTH exome
AF:
0.0855
GnomAD4 exome
Cov.:
0
GnomAD4 genome
Cov.:
0
Asia WGS
AF:
0.0810
AC:
281
AN:
3478
EpiCase
AF:
0.0701
EpiControl
AF:
0.0659

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

FOLR3-related disorder Benign:1
Feb 25, 2019
PreventionGenetics, part of Exact Sciences
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs71891516; hg19: chr11-71850156; API