rs6988942

Variant names:

• chr8-131111334-C-A
• rs6988942
• ENST00000745365.1:n.652-18545C>A

Your query was ambiguous. Multiple possible variants found:

• chr8-131111334-C-A
• chr8-131111334-C-G

Variant summary

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

The ENST00000745365.1(ENSG00000297096):​n.652-18545C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0892 in 152,166 control chromosomes in the GnomAD database, including 627 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 0.089 (627 hom., cov: 32)
• Consequence: ENSG00000297096 ENST00000745365.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47
• Publications: 2 publications found

Genes affected

ENSG00000297096 (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 = 0.104 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000745365.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000297096	ENST00000745365.1		n.652-18545C>A		intron	N/A
	ENSG00000297096	ENST00000745366.1		n.211-18545C>A		intron	N/A
	ENSG00000297096	ENST00000745367.1		n.212-18545C>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0890 AC: 13525 AN: 152048 Hom.: 618 Cov.: 32

Gnomad AFR AF: 0.0968

Gnomad AMI AF: 0.0515

Gnomad AMR AF: 0.108

Gnomad ASJ AF: 0.115

Gnomad EAS AF: 0.0972

Gnomad SAS AF: 0.106

Gnomad FIN AF: 0.0686

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.0797

Gnomad OTH AF: 0.0985

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

GnomAD4 genome AF: 0.0892 AC: 13566 AN: 152166 Hom.: 627 Cov.: 32 AF XY: 0.0895 AC XY: 6656 AN XY: 74392

African (AFR) AF: 0.0976 AC: 4051 AN: 41504

American (AMR) AF: 0.108 AC: 1657 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.115 AC: 400 AN: 3472

East Asian (EAS) AF: 0.0980 AC: 506 AN: 5162

South Asian (SAS) AF: 0.106 AC: 511 AN: 4814

European-Finnish (FIN) AF: 0.0686 AC: 726 AN: 10588

Middle Eastern (MID) AF: 0.150 AC: 44 AN: 294

European-Non Finnish (NFE) AF: 0.0797 AC: 5418 AN: 68016

Other (OTH) AF: 0.0974 AC: 206 AN: 2114

Alfa AF: 0.0839 Hom.: 1018

Bravo AF: 0.0946

Asia WGS AF: 0.0910 AC: 317 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.19
DANN	Benign	0.61
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs6988942; hg19: chr8-132123581;