rs3757676

chr7-97872723-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NR_147989.1(CZ1P-ASNS):n.1571-2910C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.363 in 152,150 control chromosomes in the GnomAD database, including 10,382 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 0.36 (10382 hom., cov: 34)
• Consequence: CZ1P-ASNS NR_147989.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.05

Genes affected

CZ1P-ASNS (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.452 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CZ1P-ASNS	NR_147989.1	n.1571-2910C>T		intron_variant, non_coding_transcript_variant
ASNS	NM_001352496.2	c.-158-274C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.363 AC: 55151 AN: 152032 Hom.: 10358 Cov.: 34

Gnomad AFR AF: 0.457

Gnomad AMI AF: 0.317

Gnomad AMR AF: 0.309

Gnomad ASJ AF: 0.328

Gnomad EAS AF: 0.446

Gnomad SAS AF: 0.308

Gnomad FIN AF: 0.379

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.315

Gnomad OTH AF: 0.365

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

GnomAD4 genome AF: 0.363 AC: 55224 AN: 152150 Hom.: 10382 Cov.: 34 AF XY: 0.366 AC XY: 27197 AN XY: 74382

Gnomad4 AFR AF: 0.457

Gnomad4 AMR AF: 0.309

Gnomad4 ASJ AF: 0.328

Gnomad4 EAS AF: 0.445

Gnomad4 SAS AF: 0.307

Gnomad4 FIN AF: 0.379

Gnomad4 NFE AF: 0.315

Gnomad4 OTH AF: 0.371

Alfa AF: 0.356 Hom.: 1232

Bravo AF: 0.363

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	1.1
Dann	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3757676; hg19: chr7-97502035;