rs35136575

Variant names:

• chr19-44935906-C-G
• rs35136575

Your query was ambiguous. Multiple possible variants found:

• chr19-44935906-C-G
• chr19-44935906-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 0.226 in 152,040 control chromosomes in the GnomAD database, including 4,079 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 0.23 (4079 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.662
• Publications: 23 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.62).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.255 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: 0.226 AC: 34325 AN: 151922 Hom.: 4077 Cov.: 30

Gnomad AFR AF: 0.181

Gnomad AMI AF: 0.219

Gnomad AMR AF: 0.211

Gnomad ASJ AF: 0.253

Gnomad EAS AF: 0.107

Gnomad SAS AF: 0.260

Gnomad FIN AF: 0.254

Gnomad MID AF: 0.152

Gnomad NFE AF: 0.258

Gnomad OTH AF: 0.208

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

GnomAD4 genome AF: 0.226 AC: 34341 AN: 152040 Hom.: 4079 Cov.: 30 AF XY: 0.223 AC XY: 16561 AN XY: 74294

African (AFR) AF: 0.181 AC: 7520 AN: 41524

American (AMR) AF: 0.210 AC: 3200 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.253 AC: 879 AN: 3470

East Asian (EAS) AF: 0.108 AC: 558 AN: 5166

South Asian (SAS) AF: 0.260 AC: 1251 AN: 4816

European-Finnish (FIN) AF: 0.254 AC: 2692 AN: 10580

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.258 AC: 17563 AN: 67952

Other (OTH) AF: 0.205 AC: 433 AN: 2108

Alfa AF: 0.152 Hom.: 277

Bravo AF: 0.219

Asia WGS AF: 0.161 AC: 566 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.62
CADD	Benign	1.4
DANN	Benign	0.49
PhyloP100		-0.66

Splicing

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

Other links and lift over

dbSNP: rs35136575; hg19: chr19-45439163;