rs1017822

Variant summary

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

The NM_207303.4(ATRNL1):​c.4018+34075C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.537 in 152,036 control chromosomes in the GnomAD database, including 23,356 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 0.54 ( 23356 hom., cov: 32)

Consequence

ATRNL1
NM_207303.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.03
Variant links:
Genes affected
ATRNL1 (HGNC:29063): (attractin like 1) Predicted to enable carbohydrate binding activity. Predicted to be involved in several processes, including animal organ morphogenesis; cell migration; and substrate adhesion-dependent cell spreading. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.734 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ATRNL1NM_207303.4 linkuse as main transcriptc.4018+34075C>G intron_variant ENST00000355044.8 NP_997186.1 Q5VV63-1Q4G0Y2

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ATRNL1ENST00000355044.8 linkuse as main transcriptc.4018+34075C>G intron_variant 1 NM_207303.4 ENSP00000347152.3 Q5VV63-1
ATRNL1ENST00000650603.1 linkuse as main transcriptn.3910+34075C>G intron_variant ENSP00000497485.1 A0A3B3ISV6

Frequencies

GnomAD3 genomes
AF:
0.537
AC:
81592
AN:
151918
Hom.:
23353
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.330
Gnomad AMI
AF:
0.579
Gnomad AMR
AF:
0.640
Gnomad ASJ
AF:
0.579
Gnomad EAS
AF:
0.755
Gnomad SAS
AF:
0.506
Gnomad FIN
AF:
0.658
Gnomad MID
AF:
0.585
Gnomad NFE
AF:
0.603
Gnomad OTH
AF:
0.567
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.537
AC:
81615
AN:
152036
Hom.:
23356
Cov.:
32
AF XY:
0.542
AC XY:
40252
AN XY:
74298
show subpopulations
Gnomad4 AFR
AF:
0.330
Gnomad4 AMR
AF:
0.641
Gnomad4 ASJ
AF:
0.579
Gnomad4 EAS
AF:
0.754
Gnomad4 SAS
AF:
0.507
Gnomad4 FIN
AF:
0.658
Gnomad4 NFE
AF:
0.603
Gnomad4 OTH
AF:
0.568
Alfa
AF:
0.563
Hom.:
3102
Bravo
AF:
0.529
Asia WGS
AF:
0.610
AC:
2121
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.87
CADD
Benign
0.35
DANN
Benign
0.40

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: rs1017822; hg19: chr10-117641577; API