rs7703618

Variant names:

• chr5-44914477-G-A
• rs7703618

Your query was ambiguous. Multiple possible variants found:

• chr5-44914477-G-A
• chr5-44914477-G-C

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 0.608 in 152,072 control chromosomes in the GnomAD database, including 28,541 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 0.61 (28541 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.174
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.645 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: 0.608 AC: 92445 AN: 151952 Hom.: 28506 Cov.: 32

Gnomad AFR AF: 0.651

Gnomad AMI AF: 0.674

Gnomad AMR AF: 0.568

Gnomad ASJ AF: 0.595

Gnomad EAS AF: 0.318

Gnomad SAS AF: 0.511

Gnomad FIN AF: 0.618

Gnomad MID AF: 0.599

Gnomad NFE AF: 0.619

Gnomad OTH AF: 0.605

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

GnomAD4 genome AF: 0.608 AC: 92522 AN: 152072 Hom.: 28541 Cov.: 32 AF XY: 0.601 AC XY: 44700 AN XY: 74316

African (AFR) AF: 0.652 AC: 27020 AN: 41464

American (AMR) AF: 0.567 AC: 8664 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.595 AC: 2065 AN: 3470

East Asian (EAS) AF: 0.319 AC: 1655 AN: 5182

South Asian (SAS) AF: 0.511 AC: 2463 AN: 4824

European-Finnish (FIN) AF: 0.618 AC: 6516 AN: 10544

Middle Eastern (MID) AF: 0.603 AC: 176 AN: 292

European-Non Finnish (NFE) AF: 0.619 AC: 42080 AN: 67992

Other (OTH) AF: 0.600 AC: 1268 AN: 2114

Alfa AF: 0.611 Hom.: 23876

Bravo AF: 0.604

Asia WGS AF: 0.427 AC: 1490 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.5
DANN	Benign	0.72
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs7703618; hg19: chr5-44914579;