rs5756444

Variant names:

• chr22-36982410-T-C
• rs5756444

Your query was ambiguous. Multiple possible variants found:

• chr22-36982410-T-C
• chr22-36982410-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.348 in 152,136 control chromosomes in the GnomAD database, including 9,473 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 0.35 (9473 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0250

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.523 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: 0.349 AC: 52981 AN: 152018 Hom.: 9475 Cov.: 32

Gnomad AFR AF: 0.308

Gnomad AMI AF: 0.384

Gnomad AMR AF: 0.416

Gnomad ASJ AF: 0.416

Gnomad EAS AF: 0.540

Gnomad SAS AF: 0.327

Gnomad FIN AF: 0.299

Gnomad MID AF: 0.335

Gnomad NFE AF: 0.348

Gnomad OTH AF: 0.373

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

GnomAD4 genome AF: 0.348 AC: 53004 AN: 152136 Hom.: 9473 Cov.: 32 AF XY: 0.348 AC XY: 25892 AN XY: 74382

Gnomad4 AFR AF: 0.307

Gnomad4 AMR AF: 0.416

Gnomad4 ASJ AF: 0.416

Gnomad4 EAS AF: 0.540

Gnomad4 SAS AF: 0.327

Gnomad4 FIN AF: 0.299

Gnomad4 NFE AF: 0.348

Gnomad4 OTH AF: 0.373

Alfa AF: 0.358 Hom.: 13428

Bravo AF: 0.360

Asia WGS AF: 0.400 AC: 1389 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	5.3
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs5756444; hg19: chr22-37378451;