rs498280

Variant names:

• chr7-105760569-T-A
• rs498280
• ENST00000318724.8:c.*809A>T

Your query was ambiguous. Multiple possible variants found:

• chr7-105760569-T-A
• chr7-105760569-T-C
• chr7-105760569-T-G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000318724.8(ATXN7L1):​c.*809A>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 33)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: ATXN7L1 ENST00000318724.8 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.363
• Publications: 8 publications found

Genes affected

ATXN7L1 (HGNC:22210): (ataxin 7 like 1)

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ATXN7L1	NM_020725.2	c.355+28035A>T		intron_variant	Intron 3 of 11	ENST00000419735.8	NP_065776.1
ATXN7L1	NM_152749.3	c.*809A>T		3_prime_UTR_variant	Exon 4 of 4		NP_689962.1
ATXN7L1	NM_001385596.1	c.355+28035A>T		intron_variant	Intron 3 of 11		NP_001372525.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ATXN7L1	ENST00000318724.8	c.*809A>T		3_prime_UTR_variant	Exon 4 of 4	1		ENSP00000326344.4
ATXN7L1	ENST00000419735.8	c.355+28035A>T		intron_variant	Intron 3 of 11	1	NM_020725.2	ENSP00000410759.3
ATXN7L1	ENST00000478915.1	c.*809A>T		3_prime_UTR_variant	Exon 3 of 3	3		ENSP00000418679.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 833474 Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0 AN XY: 384960

African (AFR) AF: 0.00 AC: 0 AN: 15784

American (AMR) AF: 0.00 AC: 0 AN: 984

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 5152

East Asian (EAS) AF: 0.00 AC: 0 AN: 3630

South Asian (SAS) AF: 0.00 AC: 0 AN: 16460

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 702

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 1620

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 761846

Other (OTH) AF: 0.00 AC: 0 AN: 27296

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.90
DANN	Benign	0.80
PhyloP100		-0.36

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: rs498280; hg19: chr7-105401015;