14-32295555-C-A

Variant names:

• chr14-32295555-C-A
• rs8007042

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 0.166 in 151,108 control chromosomes in the GnomAD database, including 2,520 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 0.17 (2520 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.330
• Publications: 2 publications found

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 (AFR) allele frequency at 95% confidence interval = 0.28 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: 0.166 AC: 25081 AN: 150990 Hom.: 2500 Cov.: 31

Gnomad AFR AF: 0.283

Gnomad AMI AF: 0.0822

Gnomad AMR AF: 0.109

Gnomad ASJ AF: 0.129

Gnomad EAS AF: 0.216

Gnomad SAS AF: 0.125

Gnomad FIN AF: 0.130

Gnomad MID AF: 0.125

Gnomad NFE AF: 0.116

Gnomad OTH AF: 0.149

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

GnomAD4 genome AF: 0.166 AC: 25146 AN: 151108 Hom.: 2520 Cov.: 31 AF XY: 0.167 AC XY: 12318 AN XY: 73774

African (AFR) AF: 0.284 AC: 11675 AN: 41114

American (AMR) AF: 0.109 AC: 1654 AN: 15168

Ashkenazi Jewish (ASJ) AF: 0.129 AC: 447 AN: 3456

East Asian (EAS) AF: 0.216 AC: 1106 AN: 5130

South Asian (SAS) AF: 0.126 AC: 600 AN: 4766

European-Finnish (FIN) AF: 0.130 AC: 1347 AN: 10348

Middle Eastern (MID) AF: 0.123 AC: 36 AN: 292

European-Non Finnish (NFE) AF: 0.116 AC: 7889 AN: 67822

Other (OTH) AF: 0.151 AC: 317 AN: 2100

Alfa AF: 0.125 Hom.: 1634

Bravo AF: 0.169

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.62
DANN	Benign	0.35
PhyloP100		-0.33

Splicing

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

Other links and lift over

dbSNP: rs8007042; hg19: chr14-32764761;