rs7735145

Variant summary

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

The variant allele was found at a frequency of 0.127 in 151,932 control chromosomes in the GnomAD database, including 1,538 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 ( 1538 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.640
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.21 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.127
AC:
19271
AN:
151814
Hom.:
1530
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.214
Gnomad AMI
AF:
0.0396
Gnomad AMR
AF:
0.131
Gnomad ASJ
AF:
0.149
Gnomad EAS
AF:
0.0892
Gnomad SAS
AF:
0.0777
Gnomad FIN
AF:
0.0940
Gnomad MID
AF:
0.108
Gnomad NFE
AF:
0.0848
Gnomad OTH
AF:
0.128
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.127
AC:
19322
AN:
151932
Hom.:
1538
Cov.:
32
AF XY:
0.126
AC XY:
9387
AN XY:
74280
show subpopulations
Gnomad4 AFR
AF:
0.214
Gnomad4 AMR
AF:
0.131
Gnomad4 ASJ
AF:
0.149
Gnomad4 EAS
AF:
0.0894
Gnomad4 SAS
AF:
0.0780
Gnomad4 FIN
AF:
0.0940
Gnomad4 NFE
AF:
0.0848
Gnomad4 OTH
AF:
0.132
Alfa
AF:
0.0974
Hom.:
1178
Bravo
AF:
0.134
Asia WGS
AF:
0.109
AC:
376
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
8.2
DANN
Benign
0.32

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: rs7735145; hg19: chr5-116647725; API