rs1060061

Variant names:

• chr1-200174314-T-A
• rs1060061
• NM_205860.3:c.*104T>A

Your query was ambiguous. Multiple possible variants found:

• chr1-200174314-T-A
• chr1-200174314-T-C

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_205860.3(NR5A2):​c.*104T>A 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: 31)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: NR5A2 NM_205860.3 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.805
• Publications: 8 publications found

Genes affected

NR5A2 (HGNC:7984): (nuclear receptor subfamily 5 group A member 2) The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.38).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NR5A2	NM_205860.3	c.*104T>A		3_prime_UTR_variant	Exon 8 of 8	ENST00000367362.8	NP_995582.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NR5A2	ENST00000367362.8	c.*104T>A		3_prime_UTR_variant	Exon 8 of 8	1	NM_205860.3	ENSP00000356331.3
NR5A2	ENST00000236914.7	c.*104T>A		3_prime_UTR_variant	Exon 7 of 7	1		ENSP00000236914.3
NR5A2	ENST00000544748.5	c.*104T>A		3_prime_UTR_variant	Exon 7 of 7	2		ENSP00000439116.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 1057094 Hom.: 0 Cov.: 14 AF XY: 0.00 AC XY: 0 AN XY: 513794

African (AFR) AF: 0.00 AC: 0 AN: 23700

American (AMR) AF: 0.00 AC: 0 AN: 18116

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 15740

East Asian (EAS) AF: 0.00 AC: 0 AN: 32332

South Asian (SAS) AF: 0.00 AC: 0 AN: 34724

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 30602

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 4064

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 853350

Other (OTH) AF: 0.00 AC: 0 AN: 44466

GnomAD4 genome Cov.: 31

Alfa AF: 0.00 Hom.: 71958

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.38
CADD	Benign	14
DANN	Benign	0.85
PhyloP100		0.81

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: rs1060061; hg19: chr1-200143442;