rs11077670

Variant names:

• chr17-73163647-G-A
• rs11077670

Your query was ambiguous. Multiple possible variants found:

• chr17-73163647-G-A
• chr17-73163647-G-C

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 0.0947 in 152,094 control chromosomes in the GnomAD database, including 754 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 0.095 (754 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.67
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.106 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: 0.0947 AC: 14392 AN: 151976 Hom.: 752 Cov.: 32

Gnomad AFR AF: 0.0903

Gnomad AMI AF: 0.0789

Gnomad AMR AF: 0.111

Gnomad ASJ AF: 0.107

Gnomad EAS AF: 0.00250

Gnomad SAS AF: 0.0407

Gnomad FIN AF: 0.132

Gnomad MID AF: 0.0886

Gnomad NFE AF: 0.0986

Gnomad OTH AF: 0.0884

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

GnomAD4 genome AF: 0.0947 AC: 14406 AN: 152094 Hom.: 754 Cov.: 32 AF XY: 0.0955 AC XY: 7101 AN XY: 74340

African (AFR) AF: 0.0905 AC: 3753 AN: 41480

American (AMR) AF: 0.111 AC: 1691 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.107 AC: 372 AN: 3470

East Asian (EAS) AF: 0.00251 AC: 13 AN: 5178

South Asian (SAS) AF: 0.0405 AC: 195 AN: 4810

European-Finnish (FIN) AF: 0.132 AC: 1394 AN: 10590

Middle Eastern (MID) AF: 0.0918 AC: 27 AN: 294

European-Non Finnish (NFE) AF: 0.0986 AC: 6705 AN: 67992

Other (OTH) AF: 0.0870 AC: 184 AN: 2114

Alfa AF: 0.0979 Hom.: 1208

Bravo AF: 0.0939

Asia WGS AF: 0.0350 AC: 125 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.7
DANN	Benign	0.39
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs11077670; hg19: chr17-71159786;