rs3823321

Variant names:

• chr6-29826690-G-A
• rs3823321

Your query was ambiguous. Multiple possible variants found:

• chr6-29826690-G-A
• chr6-29826690-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.145 in 152,168 control chromosomes in the GnomAD database, including 1,959 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 0.15 (1959 hom., cov: 33)
• Consequence: HCG4P8 intragenic
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.235
• Publications: 7 publications found

Genes affected

HCG4P8 (HGNC:22927): (HLA complex group 4 pseudogene 8)

HLA-G (HGNC:4964): (major histocompatibility complex, class I, G) HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-F-AS1 (HGNC:26645): (HLA-F antisense RNA 1)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.29 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
HCG4P8		n.29826690G>A		intragenic_variant
HLA-G	NM_001384280.1	c.-37+143G>A		intron_variant	Intron 1 of 8		NP_001371209.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
HLA-F-AS1	ENST00000849927.1	n.26+1781C>T		intron_variant	Intron 1 of 3
HLA-F-AS1	ENST00000849935.1	n.230+1030C>T		intron_variant	Intron 1 of 2

Frequencies

GnomAD3 genomes AF: 0.145 AC: 22099 AN: 152050 Hom.: 1953 Cov.: 33

Gnomad AFR AF: 0.224

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.174

Gnomad ASJ AF: 0.110

Gnomad EAS AF: 0.304

Gnomad SAS AF: 0.204

Gnomad FIN AF: 0.0875

Gnomad MID AF: 0.149

Gnomad NFE AF: 0.0861

Gnomad OTH AF: 0.153

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

GnomAD4 genome AF: 0.145 AC: 22120 AN: 152168 Hom.: 1959 Cov.: 33 AF XY: 0.148 AC XY: 10976 AN XY: 74394

African (AFR) AF: 0.224 AC: 9278 AN: 41512

American (AMR) AF: 0.174 AC: 2658 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.110 AC: 382 AN: 3470

East Asian (EAS) AF: 0.303 AC: 1567 AN: 5172

South Asian (SAS) AF: 0.203 AC: 976 AN: 4818

European-Finnish (FIN) AF: 0.0875 AC: 927 AN: 10598

Middle Eastern (MID) AF: 0.146 AC: 43 AN: 294

European-Non Finnish (NFE) AF: 0.0861 AC: 5858 AN: 68002

Other (OTH) AF: 0.159 AC: 336 AN: 2110

Alfa AF: 0.106 Hom.: 1672

Bravo AF: 0.154

Asia WGS AF: 0.327 AC: 1136 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.3
DANN	Benign	0.52
PhyloP100		0.23
PromoterAI		0.021	Neutral

Splicing

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

Other links and lift over

dbSNP: rs3823321; hg19: chr6-29794467;