rs370535

Variant names:

• chr14-68864348-A-G
• rs370535

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 0.679 in 152,054 control chromosomes in the GnomAD database, including 36,381 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 0.68 (36381 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.300
• Publications: 1 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 (EAS) allele frequency at 95% confidence interval = 0.924 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: 0.679 AC: 103189 AN: 151936 Hom.: 36356 Cov.: 32

Gnomad AFR AF: 0.487

Gnomad AMI AF: 0.792

Gnomad AMR AF: 0.788

Gnomad ASJ AF: 0.694

Gnomad EAS AF: 0.946

Gnomad SAS AF: 0.764

Gnomad FIN AF: 0.707

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.738

Gnomad OTH AF: 0.693

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

GnomAD4 genome AF: 0.679 AC: 103258 AN: 152054 Hom.: 36381 Cov.: 32 AF XY: 0.683 AC XY: 50757 AN XY: 74352

African (AFR) AF: 0.488 AC: 20205 AN: 41440

American (AMR) AF: 0.788 AC: 12045 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.694 AC: 2411 AN: 3472

East Asian (EAS) AF: 0.946 AC: 4898 AN: 5178

South Asian (SAS) AF: 0.764 AC: 3675 AN: 4810

European-Finnish (FIN) AF: 0.707 AC: 7481 AN: 10576

Middle Eastern (MID) AF: 0.680 AC: 200 AN: 294

European-Non Finnish (NFE) AF: 0.738 AC: 50154 AN: 67982

Other (OTH) AF: 0.696 AC: 1468 AN: 2108

Alfa AF: 0.718 Hom.: 100843

Bravo AF: 0.676

Asia WGS AF: 0.829 AC: 2880 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	3.8
DANN	Benign	0.82
PhyloP100		-0.30

Splicing

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

Other links and lift over

dbSNP: rs370535; hg19: chr14-69331065;