rs2518136

Variant names:

• chr3-186620038-T-A
• rs2518136
• NM_001622.4:c.759+98T>A

Your query was ambiguous. Multiple possible variants found:

• chr3-186620038-T-A
• chr3-186620038-T-C
• chr3-186620038-T-G

Variant summary

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

The NM_001622.4(AHSG):​c.759+98T>A variant causes a intron 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: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: AHSG NM_001622.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.346
• Publications: 19 publications found

Genes affected

AHSG (HGNC:349): (alpha 2-HS glycoprotein) The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]

HRG-AS1 (HGNC:55915): (HRG and FETUB antisense RNA 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=-0.81).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
AHSG	NM_001622.4	c.759+98T>A		intron_variant	Intron 6 of 6	ENST00000411641.7	NP_001613.2
AHSG	NM_001354571.2	c.762+98T>A		intron_variant	Intron 6 of 6		NP_001341500.1
AHSG	NM_001354572.2	c.756+98T>A		intron_variant	Intron 6 of 6		NP_001341501.1
AHSG	NM_001354573.2	c.676-548T>A		intron_variant	Intron 5 of 5		NP_001341502.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
AHSG	ENST00000411641.7	c.759+98T>A		intron_variant	Intron 6 of 6	1	NM_001622.4	ENSP00000393887.2

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 680604 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 348808

African (AFR) AF: 0.00 AC: 0 AN: 16904

American (AMR) AF: 0.00 AC: 0 AN: 19790

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 14730

East Asian (EAS) AF: 0.00 AC: 0 AN: 33076

South Asian (SAS) AF: 0.00 AC: 0 AN: 41370

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 41382

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3992

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 476482

Other (OTH) AF: 0.00 AC: 0 AN: 32878

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	3.1
DANN	Benign	0.48
PhyloP100		0.35

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: rs2518136; hg19: chr3-186337827;