chr2-39604090-C-A

Position:

• chr2-39604090-C-A

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 0.875 in 152,200 control chromosomes in the GnomAD database, including 60,402 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 0.87 (60401 hom., cov: 32)
  • Exomes 𝑓: 1.0 (1 hom.)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.217

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.981 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.39604090C>A		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MAP4K3-DT	ENST00000415640.1	n.73-42172C>A		intron_variant		3
MAP4K3-DT	ENST00000446698.6	n.530-20009C>A		intron_variant		5
MAP4K3-DT	ENST00000670934.1	n.522-25905C>A		intron_variant
MAP4K3-DT	ENST00000426083.5	n.*14C>A		downstream_gene_variant		1

Frequencies

GnomAD3 genomes AF: 0.875 AC: 133008 AN: 152080 Hom.: 60363 Cov.: 32

Gnomad AFR AF: 0.602

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.920

Gnomad ASJ AF: 0.991

Gnomad EAS AF: 0.957

Gnomad SAS AF: 0.986

Gnomad FIN AF: 0.999

Gnomad MID AF: 0.937

Gnomad NFE AF: 0.987

Gnomad OTH AF: 0.903

GnomAD4 exome AF: 1.00 AC: 2 AN: 2 Hom.: 1 Cov.: 0 AC XY: 0 AN XY: 0

Gnomad4 FIN exome AF: 1.00

GnomAD4 genome AF: 0.875 AC: 133103 AN: 152198 Hom.: 60401 Cov.: 32 AF XY: 0.879 AC XY: 65405 AN XY: 74428

Gnomad4 AFR AF: 0.603

Gnomad4 AMR AF: 0.920

Gnomad4 ASJ AF: 0.991

Gnomad4 EAS AF: 0.957

Gnomad4 SAS AF: 0.987

Gnomad4 FIN AF: 0.999

Gnomad4 NFE AF: 0.987

Gnomad4 OTH AF: 0.902

Alfa AF: 0.917 Hom.: 5527

Bravo AF: 0.854

Asia WGS AF: 0.937 AC: 3256 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.16
DANN	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1005427; hg19: chr2-39831230;