ENST00000807146.1:n.942C>G

Variant names:

• chr16-51619446-G-C
• rs1391727
• ENST00000807146.1:n.942C>G

Variant summary

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

The ENST00000807146.1(ENSG00000304930):​n.942C>G 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 0.135 in 152,034 control chromosomes in the GnomAD database, including 4,174 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 0.13 (4174 hom., cov: 32)
• Consequence: ENSG00000304930 ENST00000807146.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.48
• Publications: 1 publications found

Genes affected

ENSG00000304930 (HGNC:):

HNRNPA1L3 (HGNC:48778): (heterogeneous nuclear ribonucleoprotein A1 like 3) Predicted to enable RNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.435 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000304930	ENST00000807146.1	n.942C>G		non_coding_transcript_exon_variant	Exon 4 of 4
HNRNPA1L3	ENST00000565308.3	c.-487-25885G>C		intron_variant	Intron 1 of 1	6		ENSP00000493805.2

Frequencies

GnomAD3 genomes AF: 0.134 AC: 20393 AN: 151918 Hom.: 4148 Cov.: 32

Gnomad AFR AF: 0.439

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0542

Gnomad ASJ AF: 0.0458

Gnomad EAS AF: 0.0338

Gnomad SAS AF: 0.120

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.00447

Gnomad OTH AF: 0.0924

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

GnomAD4 genome AF: 0.135 AC: 20472 AN: 152034 Hom.: 4174 Cov.: 32 AF XY: 0.133 AC XY: 9866 AN XY: 74368

African (AFR) AF: 0.440 AC: 18214 AN: 41406

American (AMR) AF: 0.0542 AC: 827 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0458 AC: 159 AN: 3470

East Asian (EAS) AF: 0.0343 AC: 177 AN: 5158

South Asian (SAS) AF: 0.120 AC: 578 AN: 4820

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10604

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.00447 AC: 304 AN: 67992

Other (OTH) AF: 0.0915 AC: 193 AN: 2110

Alfa AF: 0.0780 Hom.: 274

Bravo AF: 0.149

Asia WGS AF: 0.0990 AC: 344 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.036
DANN	Benign	0.48
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs1391727; hg19: chr16-51653357;