chr1-58575384-T-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The 1-58575384-T-A variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 152,064 control chromosomes in the GnomAD database, including 2,192 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 0.13 ( 2192 hom., cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

TACSTD2
NM_002353.3 downstream_gene

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.258
Variant links:
Genes affected
TACSTD2 (HGNC:11530): (tumor associated calcium signal transducer 2) This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]

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=-0.84).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.291 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
TACSTD2NM_002353.3 linkuse as main transcript downstream_gene_variant ENST00000371225.4

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
TACSTD2ENST00000371225.4 linkuse as main transcript downstream_gene_variant NM_002353.3 P1

Frequencies

GnomAD3 genomes
AF:
0.131
AC:
19945
AN:
151946
Hom.:
2188
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.296
Gnomad AMI
AF:
0.0482
Gnomad AMR
AF:
0.0623
Gnomad ASJ
AF:
0.0854
Gnomad EAS
AF:
0.125
Gnomad SAS
AF:
0.102
Gnomad FIN
AF:
0.0466
Gnomad MID
AF:
0.0759
Gnomad NFE
AF:
0.0671
Gnomad OTH
AF:
0.0985
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
2
Hom.:
0
Cov.:
0
AC XY:
0
AN XY:
0
Gnomad4 FIN exome
AF:
0.00
GnomAD4 genome
AF:
0.131
AC:
19965
AN:
152064
Hom.:
2192
Cov.:
32
AF XY:
0.128
AC XY:
9527
AN XY:
74366
show subpopulations
Gnomad4 AFR
AF:
0.296
Gnomad4 AMR
AF:
0.0622
Gnomad4 ASJ
AF:
0.0854
Gnomad4 EAS
AF:
0.124
Gnomad4 SAS
AF:
0.102
Gnomad4 FIN
AF:
0.0466
Gnomad4 NFE
AF:
0.0671
Gnomad4 OTH
AF:
0.0970
Alfa
AF:
0.108
Hom.:
176
Bravo
AF:
0.140
Asia WGS
AF:
0.111
AC:
386
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.84
CADD
Benign
6.8
DANN
Benign
0.79

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: rs2268943; hg19: chr1-59041056; API