1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC

Position:

• chr1-209432291-TAGCAGCAGCAGCAGCAGCAGCAGCAGC-TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The ENST00000433108.1(MIR205HG):​n.3126_3134dupGCAGCAGCA variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.00071 (0 hom., cov: 0)
  • Exomes 𝑓: 0.00019 (12 hom.)
  • Failed GnomAD Quality Control
• Consequence: MIR205HG ENST00000433108.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

Genes affected

MIR205HG (HGNC:43562): (MIR205 host gene)

MIR205 (HGNC:31583): (microRNA 205) microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MIR205HG	NR_145433.1	n.617_625dupGCAGCAGCA		non_coding_transcript_exon_variant	3/3
MIR205HG	NR_145434.1	n.752_760dupGCAGCAGCA		non_coding_transcript_exon_variant	5/5
MIR205HG	NR_145435.1	n.700_708dupGCAGCAGCA		non_coding_transcript_exon_variant	4/4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MIR205HG	ENST00000366437.7	n.478_486dupGCAGCAGCA		non_coding_transcript_exon_variant	4/4	3
MIR205HG	ENST00000429156.6	n.779_787dupGCAGCAGCA		non_coding_transcript_exon_variant	5/5	3
MIR205HG	ENST00000431096.6	n.700_708dupGCAGCAGCA		non_coding_transcript_exon_variant	4/4	3

Frequencies

GnomAD3 genomes AF: 0.000682 AC: 102 AN: 149472 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00212

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000466

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000647

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000104

Gnomad OTH AF: 0.00

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000191 AC: 226 AN: 1183522 Hom.: 12 Cov.: 0 AF XY: 0.000212 AC XY: 124 AN XY: 585108

Gnomad4 AFR exome AF: 0.00290

Gnomad4 AMR exome AF: 0.000881

Gnomad4 ASJ exome AF: 0.0000614

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.000517

Gnomad4 FIN exome AF: 0.0000333

Gnomad4 NFE exome AF: 0.0000579

Gnomad4 OTH exome AF: 0.000513

GnomAD4 genome AF: 0.000709 AC: 106 AN: 149582 Hom.: 0 Cov.: 0 AF XY: 0.000740 AC XY: 54 AN XY: 72968

Gnomad4 AFR AF: 0.00221

Gnomad4 AMR AF: 0.000465

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.000648

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000104

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3842530; hg19: chr1-209605636;