rs2816310

chr1-192580495-G-T

Variant summary

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

The ENST00000644134.1(ENSG00000285280):n.468-11191C>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.158 in 152,082 control chromosomes in the GnomAD database, including 3,176 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 0.16 (3176 hom., cov: 32)
• Consequence: ENST00000644134.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0840

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.361 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC105371664	XR_002958418.2	n.287+13104C>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000644134.1	n.468-11191C>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.158 AC: 23936 AN: 151962 Hom.: 3170 Cov.: 32

Gnomad AFR AF: 0.366

Gnomad AMI AF: 0.0768

Gnomad AMR AF: 0.0880

Gnomad ASJ AF: 0.0478

Gnomad EAS AF: 0.000192

Gnomad SAS AF: 0.0757

Gnomad FIN AF: 0.0806

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.0845

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.158 AC: 23967 AN: 152082 Hom.: 3176 Cov.: 32 AF XY: 0.154 AC XY: 11436 AN XY: 74362

Gnomad4 AFR AF: 0.366

Gnomad4 AMR AF: 0.0878

Gnomad4 ASJ AF: 0.0478

Gnomad4 EAS AF: 0.000193

Gnomad4 SAS AF: 0.0756

Gnomad4 FIN AF: 0.0806

Gnomad4 NFE AF: 0.0845

Gnomad4 OTH AF: 0.112

Alfa AF: 0.121 Hom.: 249

Bravo AF: 0.168

Asia WGS AF: 0.0530 AC: 182 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
Cadd	Benign	1.5
Dann	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2816310; hg19: chr1-192549625;