1-173279818-C-T

Position:

• chr1-173279818-C-T

Variant summary

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

The NR_037845.1(LOC100506023):​n.656-39795G>A 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 0.131 in 152,134 control chromosomes in the GnomAD database, including 1,701 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 (1701 hom., cov: 32)
• Consequence: LOC100506023 NR_037845.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.690

Genes affected

LOC100506023 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.235 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC100506023	NR_037845.1	n.656-39795G>A		intron_variant, non_coding_transcript_variant
TNFSF4	XM_047429896.1	c.148-72633G>A		intron_variant
TNFSF4	XM_047429902.1	c.19-72633G>A		intron_variant

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.131 AC: 19929 AN: 152016 Hom.: 1697 Cov.: 32

Gnomad AFR AF: 0.239

Gnomad AMI AF: 0.0428

Gnomad AMR AF: 0.122

Gnomad ASJ AF: 0.107

Gnomad EAS AF: 0.176

Gnomad SAS AF: 0.0988

Gnomad FIN AF: 0.0637

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.0796

Gnomad OTH AF: 0.128

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

GnomAD4 genome AF: 0.131 AC: 19963 AN: 152134 Hom.: 1701 Cov.: 32 AF XY: 0.131 AC XY: 9720 AN XY: 74378

Gnomad4 AFR AF: 0.239

Gnomad4 AMR AF: 0.121

Gnomad4 ASJ AF: 0.107

Gnomad4 EAS AF: 0.176

Gnomad4 SAS AF: 0.0995

Gnomad4 FIN AF: 0.0637

Gnomad4 NFE AF: 0.0796

Gnomad4 OTH AF: 0.129

Alfa AF: 0.112 Hom.: 212

Bravo AF: 0.139

Asia WGS AF: 0.149 AC: 518 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs844665; hg19: chr1-173248957;