1-231466456-T-C

Variant names:

• chr1-231466456-T-C
• rs1769795
• ENST00000662216.1:c.-207-3782A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000662216.1(ENSG00000287856):​c.-207-3782A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.506 in 151,744 control chromosomes in the GnomAD database, including 20,800 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 0.51 (20800 hom., cov: 30)
• Consequence: ENSG00000287856 ENST00000662216.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.27
• Publications: 4 publications found

Genes affected

ENSG00000287856 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.702 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
ENSG00000287856	ENST00000662216.1	c.-207-3782A>G		intron_variant	Intron 2 of 6			ENSP00000499467.1
ENSG00000287856	ENST00000653908.1	c.-207-3782A>G		intron_variant	Intron 1 of 4			ENSP00000499669.1
ENSG00000287856	ENST00000653198.1	n.231-3782A>G		intron_variant	Intron 3 of 7

Frequencies

GnomAD3 genomes AF: 0.506 AC: 76656 AN: 151626 Hom.: 20745 Cov.: 30

Gnomad AFR AF: 0.708

Gnomad AMI AF: 0.376

Gnomad AMR AF: 0.541

Gnomad ASJ AF: 0.381

Gnomad EAS AF: 0.524

Gnomad SAS AF: 0.459

Gnomad FIN AF: 0.308

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.416

Gnomad OTH AF: 0.496

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

GnomAD4 genome AF: 0.506 AC: 76761 AN: 151744 Hom.: 20800 Cov.: 30 AF XY: 0.499 AC XY: 36999 AN XY: 74162

African (AFR) AF: 0.709 AC: 29317 AN: 41366

American (AMR) AF: 0.541 AC: 8236 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.381 AC: 1320 AN: 3468

East Asian (EAS) AF: 0.525 AC: 2693 AN: 5134

South Asian (SAS) AF: 0.457 AC: 2197 AN: 4808

European-Finnish (FIN) AF: 0.308 AC: 3237 AN: 10506

Middle Eastern (MID) AF: 0.388 AC: 114 AN: 294

European-Non Finnish (NFE) AF: 0.416 AC: 28260 AN: 67940

Other (OTH) AF: 0.499 AC: 1044 AN: 2092

Alfa AF: 0.487 Hom.: 2991

Bravo AF: 0.536

Asia WGS AF: 0.504 AC: 1753 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.3
DANN	Benign	0.54
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs1769795; hg19: chr1-231602202;