rs2735018

Variant names:

• chr6-29836632-G-C
• rs2735018

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 0.126 in 152,140 control chromosomes in the GnomAD database, including 1,359 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 0.13 (1359 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.334
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.188 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: 0.126 AC: 19143 AN: 152022 Hom.: 1356 Cov.: 32

Gnomad AFR AF: 0.191

Gnomad AMI AF: 0.0702

Gnomad AMR AF: 0.152

Gnomad ASJ AF: 0.0932

Gnomad EAS AF: 0.0118

Gnomad SAS AF: 0.0949

Gnomad FIN AF: 0.0964

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.0982

Gnomad OTH AF: 0.129

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

GnomAD4 genome AF: 0.126 AC: 19174 AN: 152140 Hom.: 1359 Cov.: 32 AF XY: 0.126 AC XY: 9337 AN XY: 74372

African (AFR) AF: 0.191 AC: 7944 AN: 41492

American (AMR) AF: 0.152 AC: 2318 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0932 AC: 323 AN: 3466

East Asian (EAS) AF: 0.0118 AC: 61 AN: 5178

South Asian (SAS) AF: 0.0950 AC: 458 AN: 4820

European-Finnish (FIN) AF: 0.0964 AC: 1019 AN: 10576

Middle Eastern (MID) AF: 0.143 AC: 42 AN: 294

European-Non Finnish (NFE) AF: 0.0982 AC: 6676 AN: 68000

Other (OTH) AF: 0.127 AC: 269 AN: 2112

Alfa AF: 0.0983 Hom.: 381

Bravo AF: 0.134

Asia WGS AF: 0.0600 AC: 208 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.0
DANN	Benign	0.50
PhyloP100		-0.33

Splicing

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

Other links and lift over

dbSNP: rs2735018; hg19: chr6-29804409;