4-71736535-C-G

Variant names:

• chr4-71736535-C-G
• rs1491711

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 0.35 in 152,050 control chromosomes in the GnomAD database, including 9,424 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 (9424 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.382

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.409 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: 0.350 AC: 53224 AN: 151932 Hom.: 9424 Cov.: 32

Gnomad AFR AF: 0.345

Gnomad AMI AF: 0.328

Gnomad AMR AF: 0.417

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.200

Gnomad SAS AF: 0.259

Gnomad FIN AF: 0.374

Gnomad MID AF: 0.449

Gnomad NFE AF: 0.348

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.350 AC: 53253 AN: 152050 Hom.: 9424 Cov.: 32 AF XY: 0.351 AC XY: 26093 AN XY: 74328

Gnomad4 AFR AF: 0.345

Gnomad4 AMR AF: 0.418

Gnomad4 ASJ AF: 0.424

Gnomad4 EAS AF: 0.199

Gnomad4 SAS AF: 0.258

Gnomad4 FIN AF: 0.374

Gnomad4 NFE AF: 0.348

Gnomad4 OTH AF: 0.366

Alfa AF: 0.347 Hom.: 1131

Bravo AF: 0.355

Asia WGS AF: 0.271 AC: 940 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.65
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1491711; hg19: chr4-72602252;