6-28331910-C-T

Variant names:

• chr6-28331910-C-T
• rs853676
• NM_030899.5:c.-95-2132G>A

Variant summary

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

The NM_030899.5(ZSCAN31):​c.-95-2132G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.187 in 152,154 control chromosomes in the GnomAD database, including 3,320 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 0.19 (3320 hom., cov: 32)
• Consequence: ZSCAN31 NM_030899.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.432
• Publications: 31 publications found

Genes affected

ZSCAN31 (HGNC:14097): (zinc finger and SCAN domain containing 31) This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.57).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.322 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_030899.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZSCAN31	NM_030899.5	MANE Select	c.-95-2132G>A		intron	N/A	NP_112161.3
	ZSCAN31	NM_001135215.1		c.-31-2196G>A		intron	N/A	NP_001128687.1
	ZSCAN31	NM_001135216.1		c.-95-2132G>A		intron	N/A	NP_001128688.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZSCAN31	ENST00000344279.11	TSL:1 MANE Select	c.-95-2132G>A		intron	N/A	ENSP00000345339.6
	ZSCAN31	ENST00000396838.6	TSL:1	c.-31-2196G>A		intron	N/A	ENSP00000380050.2
	ZSCAN31	ENST00000439158.5	TSL:1	c.-95-2132G>A		intron	N/A	ENSP00000413705.1

Frequencies

GnomAD3 genomes AF: 0.187 AC: 28361 AN: 152036 Hom.: 3315 Cov.: 32

Gnomad AFR AF: 0.327

Gnomad AMI AF: 0.144

Gnomad AMR AF: 0.164

Gnomad ASJ AF: 0.128

Gnomad EAS AF: 0.125

Gnomad SAS AF: 0.0926

Gnomad FIN AF: 0.0570

Gnomad MID AF: 0.0823

Gnomad NFE AF: 0.142

Gnomad OTH AF: 0.178

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

GnomAD4 genome AF: 0.187 AC: 28383 AN: 152154 Hom.: 3320 Cov.: 32 AF XY: 0.179 AC XY: 13292 AN XY: 74406

African (AFR) AF: 0.326 AC: 13530 AN: 41482

American (AMR) AF: 0.164 AC: 2505 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.128 AC: 444 AN: 3468

East Asian (EAS) AF: 0.125 AC: 650 AN: 5184

South Asian (SAS) AF: 0.0931 AC: 449 AN: 4824

European-Finnish (FIN) AF: 0.0570 AC: 605 AN: 10610

Middle Eastern (MID) AF: 0.0816 AC: 24 AN: 294

European-Non Finnish (NFE) AF: 0.142 AC: 9675 AN: 67986

Other (OTH) AF: 0.175 AC: 370 AN: 2112

Alfa AF: 0.166 Hom.: 5252

Bravo AF: 0.204

Asia WGS AF: 0.109 AC: 383 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.57
CADD	Benign	5.4
DANN	Benign	0.53
PhyloP100		0.43
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs853676; hg19: chr6-28299687;