5-160394996-G-T

Variant summary

Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1

The NM_022090.5(FAM200C):​c.495C>A​(p.Ile165=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0038 in 1,613,776 control chromosomes in the GnomAD database, including 163 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.019 ( 66 hom., cov: 32)
Exomes 𝑓: 0.0022 ( 97 hom. )

Consequence

FAM200C
NM_022090.5 synonymous

Scores

2

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 1.20
Variant links:
Genes affected
FAM200C (HGNC:30804): (family with sequence similarity 200 member C) Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -15 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.53).
BP6
Variant 5-160394996-G-T is Benign according to our data. Variant chr5-160394996-G-T is described in ClinVar as [Benign]. Clinvar id is 789585.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=1.2 with no splicing effect.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0623 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
FAM200CNM_022090.5 linkuse as main transcriptc.495C>A p.Ile165= synonymous_variant 2/2 ENST00000408953.4 NP_071373.2
FAM200CNM_001303251.2 linkuse as main transcriptc.495C>A p.Ile165= synonymous_variant 3/3 NP_001290180.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
FAM200CENST00000408953.4 linkuse as main transcriptc.495C>A p.Ile165= synonymous_variant 2/22 NM_022090.5 ENSP00000386184 P1
FAM200CENST00000523213.1 linkuse as main transcriptc.495C>A p.Ile165= synonymous_variant 3/31 ENSP00000428831 P1

Frequencies

GnomAD3 genomes
AF:
0.0190
AC:
2892
AN:
152156
Hom.:
66
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0642
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0101
Gnomad ASJ
AF:
0.00634
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.000414
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00633
Gnomad NFE
AF:
0.000220
Gnomad OTH
AF:
0.0172
GnomAD3 exomes
AF:
0.00528
AC:
1313
AN:
248450
Hom.:
40
AF XY:
0.00392
AC XY:
527
AN XY:
134504
show subpopulations
Gnomad AFR exome
AF:
0.0708
Gnomad AMR exome
AF:
0.00220
Gnomad ASJ exome
AF:
0.00348
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.000229
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.000216
Gnomad OTH exome
AF:
0.00344
GnomAD4 exome
AF:
0.00221
AC:
3233
AN:
1461502
Hom.:
97
Cov.:
33
AF XY:
0.00190
AC XY:
1382
AN XY:
727050
show subpopulations
Gnomad4 AFR exome
AF:
0.0735
Gnomad4 AMR exome
AF:
0.00358
Gnomad4 ASJ exome
AF:
0.00402
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000220
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.000143
Gnomad4 OTH exome
AF:
0.00505
GnomAD4 genome
AF:
0.0191
AC:
2902
AN:
152274
Hom.:
66
Cov.:
32
AF XY:
0.0187
AC XY:
1395
AN XY:
74454
show subpopulations
Gnomad4 AFR
AF:
0.0643
Gnomad4 AMR
AF:
0.0101
Gnomad4 ASJ
AF:
0.00634
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.000414
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.000220
Gnomad4 OTH
AF:
0.0170
Alfa
AF:
0.00924
Hom.:
22
Bravo
AF:
0.0228
Asia WGS
AF:
0.00346
AC:
12
AN:
3478
EpiCase
AF:
0.000109
EpiControl
AF:
0.000178

ClinVar

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

Submissions by phenotype

not provided Benign:1
Benign, criteria provided, single submitterclinical testingLabcorp Genetics (formerly Invitae), LabcorpJan 30, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.53
CADD
Benign
5.1
DANN
Benign
0.70

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs61740683; hg19: chr5-159822003; API