1-209671172-A-T

Variant names:

• chr1-209671172-A-T
• rs4844486
• ENST00000441672.2:n.284-8111T>A

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000441672.2(HSD11B1-AS1):​n.284-8111T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 33)
• Consequence: HSD11B1-AS1 ENST00000441672.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.240
• Publications: 14 publications found

Genes affected

HSD11B1-AS1 (HGNC:54053): (HSD11B1 antisense RNA 1)

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
HSD11B1-AS1	NR_134509.1	n.97-8111T>A		intron_variant	Intron 1 of 2
HSD11B1-AS1	NR_134510.1	n.67-8111T>A		intron_variant	Intron 1 of 2
HSD11B1-AS1	NR_134511.1	n.28+4050T>A		intron_variant	Intron 1 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
HSD11B1-AS1	ENST00000441672.2	n.284-8111T>A		intron_variant	Intron 2 of 3	3
HSD11B1-AS1	ENST00000445272.8	n.124+4050T>A		intron_variant	Intron 1 of 2	5
HSD11B1-AS1	ENST00000774900.1	n.122-8111T>A		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes Cov.: 33

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

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	6.4
DANN	Benign	0.84
PhyloP100		-0.24

Splicing

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

Other links and lift over

dbSNP: rs4844486; hg19: chr1-209844517;