14-65752364-G-C

Variant names:

• chr14-65752364-G-C
• rs927005

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0788 in 151,930 control chromosomes in the GnomAD database, including 580 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 0.079 (580 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.331

ACMG classification

Verdict is Benign. Variant got -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 = 0.118 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: 0.0787 AC: 11951 AN: 151812 Hom.: 579 Cov.: 32

Gnomad AFR AF: 0.121

Gnomad AMI AF: 0.0540

Gnomad AMR AF: 0.118

Gnomad ASJ AF: 0.0950

Gnomad EAS AF: 0.00290

Gnomad SAS AF: 0.0317

Gnomad FIN AF: 0.0512

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.0573

Gnomad OTH AF: 0.0830

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

GnomAD4 genome AF: 0.0788 AC: 11965 AN: 151930 Hom.: 580 Cov.: 32 AF XY: 0.0781 AC XY: 5798 AN XY: 74266

Gnomad4 AFR AF: 0.120

Gnomad4 AMR AF: 0.118

Gnomad4 ASJ AF: 0.0950

Gnomad4 EAS AF: 0.00290

Gnomad4 SAS AF: 0.0313

Gnomad4 FIN AF: 0.0512

Gnomad4 NFE AF: 0.0573

Gnomad4 OTH AF: 0.0821

Alfa AF: 0.0183 Hom.: 7

Bravo AF: 0.0871

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.41
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs927005; hg19: chr14-66219082;