chr14-65752364-G-C

Position:

• chr14-65752364-G-C

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;