6-31563533-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BS1 BS2

The NR_149045.1(LOC100287329):n.122-2811A>C 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 0.0148 in 152,306 control chromosomes in the GnomAD database, including 30 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 0.015 (30 hom., cov: 31)
• Consequence: LOC100287329 NR_149045.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.265

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BS1: Variant frequency is greater than expected in population amr. gnomad4 allele frequency = 0.0148 (2260/152306) while in subpopulation AMR AF= 0.0241 (369/15298). AF 95% confidence interval is 0.0221. There are 30 homozygotes in gnomad4. There are 1078 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd at 30 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC100287329	NR_149045.1	n.122-2811A>C		intron_variant, non_coding_transcript_variant
LTA	XM_047418773.1	c.-342+2264T>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000691266.1	n.119-2811A>C		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.0148 AC: 2245 AN: 152188 Hom.: 30 Cov.: 31

Gnomad AFR AF: 0.0207

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0242

Gnomad ASJ AF: 0.0118

Gnomad EAS AF: 0.00211

Gnomad SAS AF: 0.000621

Gnomad FIN AF: 0.00151

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.0130

Gnomad OTH AF: 0.0258

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

GnomAD4 genome AF: 0.0148 AC: 2260 AN: 152306 Hom.: 30 Cov.: 31 AF XY: 0.0145 AC XY: 1078 AN XY: 74472

Gnomad4 AFR AF: 0.0210

Gnomad4 AMR AF: 0.0241

Gnomad4 ASJ AF: 0.0118

Gnomad4 EAS AF: 0.00212

Gnomad4 SAS AF: 0.000829

Gnomad4 FIN AF: 0.00151

Gnomad4 NFE AF: 0.0130

Gnomad4 OTH AF: 0.0256

Alfa AF: 0.0127 Hom.: 24

Bravo AF: 0.0166

Asia WGS AF: 0.00433 AC: 15 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
Cadd	Benign	1.7
Dann	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7762619; hg19: chr6-31531310;