rs1435985

Variant names:

• chr18-75405120-C-G
• rs1435985

Your query was ambiguous. Multiple possible variants found:

• chr18-75405120-C-G
• chr18-75405120-C-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 0.147 in 152,084 control chromosomes in the GnomAD database, including 1,991 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 0.15 (1991 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.672
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.192 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: 0.147 AC: 22321 AN: 151966 Hom.: 1987 Cov.: 32

Gnomad AFR AF: 0.0552

Gnomad AMI AF: 0.292

Gnomad AMR AF: 0.197

Gnomad ASJ AF: 0.140

Gnomad EAS AF: 0.00754

Gnomad SAS AF: 0.153

Gnomad FIN AF: 0.179

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.195

Gnomad OTH AF: 0.153

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

GnomAD4 genome AF: 0.147 AC: 22337 AN: 152084 Hom.: 1991 Cov.: 32 AF XY: 0.145 AC XY: 10770 AN XY: 74342

African (AFR) AF: 0.0550 AC: 2285 AN: 41510

American (AMR) AF: 0.197 AC: 3020 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.140 AC: 487 AN: 3472

East Asian (EAS) AF: 0.00756 AC: 39 AN: 5162

South Asian (SAS) AF: 0.153 AC: 737 AN: 4814

European-Finnish (FIN) AF: 0.179 AC: 1888 AN: 10544

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.195 AC: 13259 AN: 67978

Other (OTH) AF: 0.151 AC: 319 AN: 2106

Alfa AF: 0.169 Hom.: 322

Bravo AF: 0.145

Asia WGS AF: 0.0820 AC: 284 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.27
DANN	Benign	0.42
PhyloP100		-0.67

Splicing

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

Other links and lift over

dbSNP: rs1435985; hg19: chr18-73117075;