rs1099447

chr1-173262312-A-G

Variant summary

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

The NR_037845.1(LOC100506023):n.656-22289T>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 0.639 in 152,032 control chromosomes in the GnomAD database, including 33,492 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 0.64 (33492 hom., cov: 32)
• Consequence: LOC100506023 NR_037845.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.30

Genes affected

LOC100506023 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.08).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.906 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC100506023	NR_037845.1	n.656-22289T>C		intron_variant, non_coding_transcript_variant
TNFSF4	XM_047429896.1	c.148-55127T>C		intron_variant
TNFSF4	XM_047429902.1	c.19-55127T>C		intron_variant

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.639 AC: 97004 AN: 151914 Hom.: 33427 Cov.: 32

Gnomad AFR AF: 0.914

Gnomad AMI AF: 0.439

Gnomad AMR AF: 0.649

Gnomad ASJ AF: 0.520

Gnomad EAS AF: 0.444

Gnomad SAS AF: 0.537

Gnomad FIN AF: 0.526

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.517

Gnomad OTH AF: 0.635

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

GnomAD4 genome AF: 0.639 AC: 97126 AN: 152032 Hom.: 33492 Cov.: 32 AF XY: 0.639 AC XY: 47442 AN XY: 74292

Gnomad4 AFR AF: 0.914

Gnomad4 AMR AF: 0.648

Gnomad4 ASJ AF: 0.520

Gnomad4 EAS AF: 0.443

Gnomad4 SAS AF: 0.537

Gnomad4 FIN AF: 0.526

Gnomad4 NFE AF: 0.517

Gnomad4 OTH AF: 0.636

Alfa AF: 0.580 Hom.: 3399

Bravo AF: 0.662

Asia WGS AF: 0.528 AC: 1836 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
Cadd	Benign	0.67
Dann	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1099447; hg19: chr1-173231451;