1-209432291-T-TAGCAGCAGCAGCAGCAGC

Position:

• chr1-209432291-T-TAGCAGCAGCAGCAGCAGC

Variant summary

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

The NR_145433.1(MIR205HG):​n.608_625dupGCAGCAGCAGCAGCAGCA 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 0.00019 (0 hom., cov: 0)
  • Exomes 𝑓: 0.000074 (13 hom.)
  • Failed GnomAD Quality Control
• Consequence: MIR205HG NR_145433.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

Genes affected

MIR205HG (HGNC:):

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.608_625dupGCAGCAGCAGCAGCAGCA		non_coding_transcript_exon_variant	3/3
MIR205HG	NR_145434.1	n.743_760dupGCAGCAGCAGCAGCAGCA		non_coding_transcript_exon_variant	5/5
MIR205HG	NR_145435.1	n.691_708dupGCAGCAGCAGCAGCAGCA		non_coding_transcript_exon_variant	4/4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MIR205HG	ENST00000366437.7	n.469_486dupGCAGCAGCAGCAGCAGCA		non_coding_transcript_exon_variant	4/4	3
MIR205HG	ENST00000429156.6	n.770_787dupGCAGCAGCAGCAGCAGCA		non_coding_transcript_exon_variant	5/5	3
MIR205HG	ENST00000431096.6	n.691_708dupGCAGCAGCAGCAGCAGCA		non_coding_transcript_exon_variant	4/4	3

Frequencies

GnomAD3 genomes AF: 0.000187 AC: 28 AN: 149472 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000373

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00258

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000744 AC: 88 AN: 1183538 Hom.: 13 Cov.: 0 AF XY: 0.0000718 AC XY: 42 AN XY: 585118

Gnomad4 AFR exome AF: 0.000579

Gnomad4 AMR exome AF: 0.0000587

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00299

Gnomad4 SAS exome AF: 0.0000246

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00000965

Gnomad4 OTH exome AF: 0.000117

GnomAD4 genome AF: 0.000187 AC: 28 AN: 149582 Hom.: 0 Cov.: 0 AF XY: 0.000137 AC XY: 10 AN XY: 72968

Gnomad4 AFR AF: 0.000372

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00258

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00

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;