rs4731365

Variant names:

• chr7-127442443-G-A
• rs4731365

Your query was ambiguous. Multiple possible variants found:

• chr7-127442443-G-A
• chr7-127442443-G-C
• chr7-127442443-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 0.325 in 152,118 control chromosomes in the GnomAD database, including 10,155 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 0.33 (10155 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.53
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.704 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: 0.325 AC: 49467 AN: 152000 Hom.: 10143 Cov.: 32

Gnomad AFR AF: 0.0905

Gnomad AMI AF: 0.400

Gnomad AMR AF: 0.372

Gnomad ASJ AF: 0.267

Gnomad EAS AF: 0.723

Gnomad SAS AF: 0.409

Gnomad FIN AF: 0.468

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.402

Gnomad OTH AF: 0.323

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

GnomAD4 genome AF: 0.325 AC: 49479 AN: 152118 Hom.: 10155 Cov.: 32 AF XY: 0.334 AC XY: 24848 AN XY: 74360

African (AFR) AF: 0.0903 AC: 3749 AN: 41514

American (AMR) AF: 0.372 AC: 5687 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.267 AC: 926 AN: 3466

East Asian (EAS) AF: 0.723 AC: 3739 AN: 5170

South Asian (SAS) AF: 0.411 AC: 1980 AN: 4822

European-Finnish (FIN) AF: 0.468 AC: 4952 AN: 10578

Middle Eastern (MID) AF: 0.214 AC: 63 AN: 294

European-Non Finnish (NFE) AF: 0.402 AC: 27334 AN: 67964

Other (OTH) AF: 0.324 AC: 684 AN: 2110

Alfa AF: 0.355 Hom.: 20471

Bravo AF: 0.309

Asia WGS AF: 0.518 AC: 1797 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.21
DANN	Benign	0.56
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs4731365; hg19: chr7-127082497;