rs1936166

Variant names:

• chr6-77388936-G-A
• rs1936166

Your query was ambiguous. Multiple possible variants found:

• chr6-77388936-G-A
• chr6-77388936-G-C
• chr6-77388936-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.907 in 152,030 control chromosomes in the GnomAD database, including 63,354 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 0.91 (63354 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.63
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.974 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: 0.908 AC: 137876 AN: 151912 Hom.: 63322 Cov.: 33

Gnomad AFR AF: 0.756

Gnomad AMI AF: 0.986

Gnomad AMR AF: 0.958

Gnomad ASJ AF: 0.974

Gnomad EAS AF: 0.797

Gnomad SAS AF: 0.913

Gnomad FIN AF: 0.978

Gnomad MID AF: 0.940

Gnomad NFE AF: 0.981

Gnomad OTH AF: 0.922

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

GnomAD4 genome AF: 0.907 AC: 137960 AN: 152030 Hom.: 63354 Cov.: 33 AF XY: 0.908 AC XY: 67479 AN XY: 74330

African (AFR) AF: 0.755 AC: 31326 AN: 41466

American (AMR) AF: 0.958 AC: 14613 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.974 AC: 3380 AN: 3472

East Asian (EAS) AF: 0.799 AC: 4132 AN: 5174

South Asian (SAS) AF: 0.913 AC: 4402 AN: 4822

European-Finnish (FIN) AF: 0.978 AC: 10395 AN: 10626

Middle Eastern (MID) AF: 0.935 AC: 275 AN: 294

European-Non Finnish (NFE) AF: 0.981 AC: 66587 AN: 67898

Other (OTH) AF: 0.923 AC: 1951 AN: 2114

Alfa AF: 0.935 Hom.: 19334

Bravo AF: 0.899

Asia WGS AF: 0.862 AC: 3000 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	1.1
DANN	Benign	0.62
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs1936166; hg19: chr6-78098653;