rs8011986

Variant names:

• chr14-43616565-T-C
• rs8011986
• ENST00000807481.1:n.400+34646A>G

Your query was ambiguous. Multiple possible variants found:

• chr14-43616565-T-C
• chr14-43616565-T-G

Variant summary

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

The ENST00000807481.1(ENSG00000304974):​n.400+34646A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.243 in 152,020 control chromosomes in the GnomAD database, including 4,617 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 0.24 (4617 hom., cov: 32)
• Consequence: ENSG00000304974 ENST00000807481.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.377
• Publications: 1 publications found

Genes affected

ENSG00000304974 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.279 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
ENSG00000304974	ENST00000807481.1	n.400+34646A>G		intron_variant	Intron 1 of 3

Frequencies

GnomAD3 genomes AF: 0.243 AC: 36972 AN: 151900 Hom.: 4617 Cov.: 32

Gnomad AFR AF: 0.194

Gnomad AMI AF: 0.125

Gnomad AMR AF: 0.227

Gnomad ASJ AF: 0.160

Gnomad EAS AF: 0.241

Gnomad SAS AF: 0.291

Gnomad FIN AF: 0.270

Gnomad MID AF: 0.194

Gnomad NFE AF: 0.276

Gnomad OTH AF: 0.228

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

GnomAD4 genome AF: 0.243 AC: 36990 AN: 152020 Hom.: 4617 Cov.: 32 AF XY: 0.243 AC XY: 18055 AN XY: 74332

African (AFR) AF: 0.194 AC: 8044 AN: 41496

American (AMR) AF: 0.227 AC: 3471 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.160 AC: 554 AN: 3462

East Asian (EAS) AF: 0.241 AC: 1247 AN: 5174

South Asian (SAS) AF: 0.292 AC: 1404 AN: 4816

European-Finnish (FIN) AF: 0.270 AC: 2847 AN: 10546

Middle Eastern (MID) AF: 0.185 AC: 54 AN: 292

European-Non Finnish (NFE) AF: 0.276 AC: 18783 AN: 67956

Other (OTH) AF: 0.224 AC: 472 AN: 2104

Alfa AF: 0.249 Hom.: 2553

Bravo AF: 0.239

Asia WGS AF: 0.248 AC: 860 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	3.6
DANN	Benign	0.61
PhyloP100		-0.38

Splicing

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

Other links and lift over

dbSNP: rs8011986; hg19: chr14-44085768;