rs3094011

chr6-31484059-T-C

Variant summary

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

The NR_149132.1(MICB-DT):n.542-2701A>G 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 0.111 in 151,894 control chromosomes in the GnomAD database, including 1,146 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 0.11 (1146 hom., cov: 32)
• Consequence: MICB-DT NR_149132.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.17

Genes affected

MICB-DT (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.136 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MICB-DT	NR_149132.1	n.542-2701A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MICB-DT	ENST00000665353.1	n.683-2701A>G		intron_variant, non_coding_transcript_variant
MICB-DT	ENST00000656299.1	n.68-2750A>G		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.111 AC: 16901 AN: 151776 Hom.: 1143 Cov.: 32

Gnomad AFR AF: 0.139

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.0616

Gnomad ASJ AF: 0.0639

Gnomad EAS AF: 0.0713

Gnomad SAS AF: 0.0474

Gnomad FIN AF: 0.0812

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.121

Gnomad OTH AF: 0.0957

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

GnomAD4 genome AF: 0.111 AC: 16914 AN: 151894 Hom.: 1146 Cov.: 32 AF XY: 0.106 AC XY: 7873 AN XY: 74264

Gnomad4 AFR AF: 0.139

Gnomad4 AMR AF: 0.0615

Gnomad4 ASJ AF: 0.0639

Gnomad4 EAS AF: 0.0715

Gnomad4 SAS AF: 0.0476

Gnomad4 FIN AF: 0.0812

Gnomad4 NFE AF: 0.121

Gnomad4 OTH AF: 0.0947

Alfa AF: 0.118 Hom.: 208

Bravo AF: 0.113

Asia WGS AF: 0.0640 AC: 223 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.45
Dann	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3094011; hg19: chr6-31451836;