rs4373814

Variant names:

• chr10-18131043-G-C
• rs4373814

Your query was ambiguous. Multiple possible variants found:

• chr10-18131043-G-C
• chr10-18131043-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 0.488 in 151,994 control chromosomes in the GnomAD database, including 18,471 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 0.49 (18471 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.577
• Publications: 49 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.562 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: 0.488 AC: 74090 AN: 151876 Hom.: 18422 Cov.: 33

Gnomad AFR AF: 0.567

Gnomad AMI AF: 0.359

Gnomad AMR AF: 0.460

Gnomad ASJ AF: 0.394

Gnomad EAS AF: 0.518

Gnomad SAS AF: 0.465

Gnomad FIN AF: 0.598

Gnomad MID AF: 0.434

Gnomad NFE AF: 0.436

Gnomad OTH AF: 0.457

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

GnomAD4 genome AF: 0.488 AC: 74187 AN: 151994 Hom.: 18471 Cov.: 33 AF XY: 0.495 AC XY: 36736 AN XY: 74288

African (AFR) AF: 0.568 AC: 23532 AN: 41444

American (AMR) AF: 0.460 AC: 7033 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.394 AC: 1367 AN: 3470

East Asian (EAS) AF: 0.517 AC: 2672 AN: 5172

South Asian (SAS) AF: 0.464 AC: 2238 AN: 4820

European-Finnish (FIN) AF: 0.598 AC: 6296 AN: 10536

Middle Eastern (MID) AF: 0.432 AC: 127 AN: 294

European-Non Finnish (NFE) AF: 0.436 AC: 29618 AN: 67964

Other (OTH) AF: 0.463 AC: 979 AN: 2114

Alfa AF: 0.422 Hom.: 7126

Bravo AF: 0.480

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.0
DANN	Benign	0.27
PhyloP100		0.58

Splicing

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

Other links and lift over

dbSNP: rs4373814; hg19: chr10-18419972;