rs1036475

Variant names:

• chr5-30720171-A-G
• rs1036475

Your query was ambiguous. Multiple possible variants found:

• chr5-30720171-A-G
• chr5-30720171-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.946 in 152,072 control chromosomes in the GnomAD database, including 68,091 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 0.95 (68091 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.609

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.957 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: 0.946 AC: 143769 AN: 151954 Hom.: 68036 Cov.: 33

Gnomad AFR AF: 0.941

Gnomad AMI AF: 0.928

Gnomad AMR AF: 0.970

Gnomad ASJ AF: 0.936

Gnomad EAS AF: 0.976

Gnomad SAS AF: 0.975

Gnomad FIN AF: 0.908

Gnomad MID AF: 0.953

Gnomad NFE AF: 0.947

Gnomad OTH AF: 0.943

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.946 AC: 143883 AN: 152072 Hom.: 68091 Cov.: 33 AF XY: 0.947 AC XY: 70367 AN XY: 74324

Gnomad4 AFR AF: 0.941

Gnomad4 AMR AF: 0.970

Gnomad4 ASJ AF: 0.936

Gnomad4 EAS AF: 0.976

Gnomad4 SAS AF: 0.975

Gnomad4 FIN AF: 0.908

Gnomad4 NFE AF: 0.947

Gnomad4 OTH AF: 0.943

Alfa AF: 0.922 Hom.: 3522

Bravo AF: 0.951

Asia WGS AF: 0.970 AC: 3372 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	4.6
DANN	Benign	0.70

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1036475; hg19: chr5-30720278;