rs7795063

Variant names:

• chr7-106737683-C-G
• rs7795063
• ENST00000592441.1:n.172+22883G>C

Your query was ambiguous. Multiple possible variants found:

• chr7-106737683-C-G
• chr7-106737683-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000592441.1(ENSG00000243797):​n.172+22883G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.4 in 151,998 control chromosomes in the GnomAD database, including 13,345 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 0.40 (13345 hom., cov: 32)
• Consequence: ENSG00000243797 ENST00000592441.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.22
• Publications: 0 publications found

Genes affected

ENSG00000243797 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.527 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
ENSG00000243797	ENST00000592441.1	n.172+22883G>C		intron_variant	Intron 2 of 4	2

Frequencies

GnomAD3 genomes AF: 0.400 AC: 60752 AN: 151880 Hom.: 13342 Cov.: 32

Gnomad AFR AF: 0.215

Gnomad AMI AF: 0.539

Gnomad AMR AF: 0.536

Gnomad ASJ AF: 0.469

Gnomad EAS AF: 0.308

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.507

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.472

Gnomad OTH AF: 0.432

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

GnomAD4 genome AF: 0.400 AC: 60784 AN: 151998 Hom.: 13345 Cov.: 32 AF XY: 0.404 AC XY: 29976 AN XY: 74276

African (AFR) AF: 0.215 AC: 8915 AN: 41464

American (AMR) AF: 0.537 AC: 8193 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.469 AC: 1626 AN: 3470

East Asian (EAS) AF: 0.307 AC: 1592 AN: 5178

South Asian (SAS) AF: 0.309 AC: 1490 AN: 4816

European-Finnish (FIN) AF: 0.507 AC: 5357 AN: 10556

Middle Eastern (MID) AF: 0.473 AC: 139 AN: 294

European-Non Finnish (NFE) AF: 0.472 AC: 32067 AN: 67948

Other (OTH) AF: 0.434 AC: 917 AN: 2114

Alfa AF: 0.426 Hom.: 1822

Bravo AF: 0.400

Asia WGS AF: 0.295 AC: 1025 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.28
DANN	Benign	0.36
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs7795063; hg19: chr7-106378129;