rs7791836

Variant names:

• chr7-88431842-G-A
• rs7791836
• ENST00000663862.1:n.91+11585G>A

Your query was ambiguous. Multiple possible variants found:

• chr7-88431842-G-A
• chr7-88431842-G-T

Variant summary

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

The ENST00000663862.1(ENSG00000233420):​n.91+11585G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.549 in 151,884 control chromosomes in the GnomAD database, including 23,304 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 0.55 (23304 hom., cov: 31)
• Consequence: ENSG00000233420 ENST00000663862.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.01

Genes affected

ENSG00000233420 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.591 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
ENSG00000233420	ENST00000663862.1	n.91+11585G>A		intron_variant	Intron 1 of 4

Frequencies

GnomAD3 genomes AF: 0.549 AC: 83304 AN: 151764 Hom.: 23283 Cov.: 31

Gnomad AFR AF: 0.509

Gnomad AMI AF: 0.552

Gnomad AMR AF: 0.467

Gnomad ASJ AF: 0.546

Gnomad EAS AF: 0.363

Gnomad SAS AF: 0.472

Gnomad FIN AF: 0.645

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.596

Gnomad OTH AF: 0.544

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

GnomAD4 genome AF: 0.549 AC: 83366 AN: 151884 Hom.: 23304 Cov.: 31 AF XY: 0.549 AC XY: 40724 AN XY: 74228

Gnomad4 AFR AF: 0.510

Gnomad4 AMR AF: 0.467

Gnomad4 ASJ AF: 0.546

Gnomad4 EAS AF: 0.363

Gnomad4 SAS AF: 0.472

Gnomad4 FIN AF: 0.645

Gnomad4 NFE AF: 0.596

Gnomad4 OTH AF: 0.544

Alfa AF: 0.575 Hom.: 14340

Bravo AF: 0.533

Asia WGS AF: 0.426 AC: 1482 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.044
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7791836; hg19: chr7-88061157;