rs707341

Positions:

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2

The NM_001366318.2(FAM193A):​c.256-25532C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0305 in 152,194 control chromosomes in the GnomAD database, including 115 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.030 ( 115 hom., cov: 31)

Consequence

FAM193A
NM_001366318.2 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.96
Variant links:
Genes affected
FAM193A (HGNC:16822): (family with sequence similarity 193 member A)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BS1
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0305 (4639/152194) while in subpopulation NFE AF= 0.0429 (2916/67984). AF 95% confidence interval is 0.0416. There are 115 homozygotes in gnomad4. There are 2324 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 115 gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
FAM193ANM_001366318.2 linkuse as main transcriptc.256-25532C>T intron_variant ENST00000637812.2 NP_001353247.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
FAM193AENST00000637812.2 linkuse as main transcriptc.256-25532C>T intron_variant 5 NM_001366318.2 ENSP00000490564 A2

Frequencies

GnomAD3 genomes
AF:
0.0305
AC:
4642
AN:
152076
Hom.:
115
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.00681
Gnomad AMI
AF:
0.0340
Gnomad AMR
AF:
0.0286
Gnomad ASJ
AF:
0.0395
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00476
Gnomad FIN
AF:
0.0703
Gnomad MID
AF:
0.0190
Gnomad NFE
AF:
0.0429
Gnomad OTH
AF:
0.0317
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0305
AC:
4639
AN:
152194
Hom.:
115
Cov.:
31
AF XY:
0.0312
AC XY:
2324
AN XY:
74402
show subpopulations
Gnomad4 AFR
AF:
0.00679
Gnomad4 AMR
AF:
0.0285
Gnomad4 ASJ
AF:
0.0395
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00477
Gnomad4 FIN
AF:
0.0703
Gnomad4 NFE
AF:
0.0429
Gnomad4 OTH
AF:
0.0313
Alfa
AF:
0.0378
Hom.:
31
Bravo
AF:
0.0257
Asia WGS
AF:
0.00375
AC:
13
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.99
CADD
Benign
0.40
DANN
Benign
0.30

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: rs707341; hg19: chr4-2572279; API