Genetic Variant ENST00000376800.7:n.179G>C (chr6-29975290-G-C) – ACMG Classification: Likely_benign (-4 pts)

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

The ENST00000376800.7(HCG9):n.179G>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000531 in 376,744 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: 30)

Exomes 𝑓: 0.0000053 ( 0 hom. )

Consequence

HCG9
ENST00000376800.7 non_coding_transcript_exon

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.655

Publications

0 publications found

Variant links:

Genes affected

HCG9 (HGNC:21243): (HLA complex group 9) This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]

HCG9 links:

MICD (HGNC:7093): (MHC class I polypeptide-related sequence D (pseudogene))

MICD links:

POLR1HASP (HGNC:):

POLR1HASP links:

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ACMG classification

Classification was made for transcript

Our verdict: Likely_benign. The variant received -4 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.87).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
HCG9	NR_028032.1 link	n.176G>C		non_coding_transcript_exon_variant	Exon 1 of 3
MICD		n.29975290G>C		intragenic_variant

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL
HCG9	ENST00000376800.7 link	n.179G>C	non_coding_transcript_exon_variant	Exon 1 of 3	1
POLR1HASP	ENST00000849678.1 link	n.589-28374C>G	intron_variant	Intron 3 of 4
POLR1HASP	ENST00000849679.1 link	n.65+1313C>G	intron_variant	Intron 1 of 5

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

AF:

0.00000531

AC:

AN:

376744

Hom.:

Cov.:

AF XY:

0.00000933

AC XY:

AN XY:

214266

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

10494

American (AMR)

AF:

0.00

AC:

AN:

34800

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

11628

East Asian (EAS)

AF:

0.00

AC:

AN:

13352

South Asian (SAS)

AF:

0.00

AC:

AN:

65554

European-Finnish (FIN)

AF:

0.00

AC:

AN:

31148

Middle Eastern (MID)

AF:

0.000703

AC:

AN:

2846

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

190326

Other (OTH)

AF:

0.00

AC:

AN:

16596

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.500

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.87

CADD

Benign

4.8

(source)

DANN

Benign

0.66

PhyloP100

0.66

Splicing

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

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over