rs624076

Variant summary

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

The NR_136251.1(LOC105377879):​n.278+355G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.319 in 151,812 control chromosomes in the GnomAD database, including 10,872 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 0.32 ( 10872 hom., cov: 32)

Consequence

LOC105377879
NR_136251.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.306
Variant links:
Genes affected

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=-0.92).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.634 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
LOC105377879NR_136251.1 linkn.278+355G>A intron_variant Intron 1 of 2

Ensembl

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

Frequencies

GnomAD3 genomes
AF:
0.319
AC:
48365
AN:
151694
Hom.:
10828
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.640
Gnomad AMI
AF:
0.191
Gnomad AMR
AF:
0.228
Gnomad ASJ
AF:
0.249
Gnomad EAS
AF:
0.267
Gnomad SAS
AF:
0.279
Gnomad FIN
AF:
0.121
Gnomad MID
AF:
0.307
Gnomad NFE
AF:
0.187
Gnomad OTH
AF:
0.312
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.319
AC:
48463
AN:
151812
Hom.:
10872
Cov.:
32
AF XY:
0.315
AC XY:
23326
AN XY:
74154
show subpopulations
Gnomad4 AFR
AF:
0.640
Gnomad4 AMR
AF:
0.228
Gnomad4 ASJ
AF:
0.249
Gnomad4 EAS
AF:
0.267
Gnomad4 SAS
AF:
0.278
Gnomad4 FIN
AF:
0.121
Gnomad4 NFE
AF:
0.187
Gnomad4 OTH
AF:
0.314
Alfa
AF:
0.217
Hom.:
4156
Bravo
AF:
0.339
Asia WGS
AF:
0.322
AC:
1125
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
1.3
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: rs624076; hg19: chr6-84419793; COSMIC: COSV52132688; API