chr2-224016089-T-C

Position:

• chr2-224016089-T-C

Variant summary

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

The NM_001136528.2(SERPINE2):​c.-22-14167A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.944 in 152,340 control chromosomes in the GnomAD database, including 68,222 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 0.94 (68222 hom., cov: 34)
• Consequence: SERPINE2 NM_001136528.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.312

Genes affected

SERPINE2 (HGNC:8951): (serpin family E member 2) This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

LOC124907990 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.986 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SERPINE2	NM_001136528.2	c.-22-14167A>G		intron_variant		ENST00000409304.6
LOC124907990	XR_007088102.1	n.282-2719T>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SERPINE2	ENST00000409304.6	c.-22-14167A>G		intron_variant		1	NM_001136528.2	A1

Frequencies

GnomAD3 genomes AF: 0.944 AC: 143714 AN: 152222 Hom.: 68189 Cov.: 34

Gnomad AFR AF: 0.859

Gnomad AMI AF: 0.991

Gnomad AMR AF: 0.967

Gnomad ASJ AF: 0.988

Gnomad EAS AF: 0.781

Gnomad SAS AF: 0.936

Gnomad FIN AF: 0.997

Gnomad MID AF: 0.965

Gnomad NFE AF: 0.992

Gnomad OTH AF: 0.954

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

GnomAD4 genome AF: 0.944 AC: 143803 AN: 152340 Hom.: 68222 Cov.: 34 AF XY: 0.944 AC XY: 70313 AN XY: 74502

Gnomad4 AFR AF: 0.859

Gnomad4 AMR AF: 0.967

Gnomad4 ASJ AF: 0.988

Gnomad4 EAS AF: 0.782

Gnomad4 SAS AF: 0.936

Gnomad4 FIN AF: 0.997

Gnomad4 NFE AF: 0.992

Gnomad4 OTH AF: 0.946

Alfa AF: 0.981 Hom.: 3585

Bravo AF: 0.936

Asia WGS AF: 0.820 AC: 2855 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.7
DANN	Benign	0.65

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

Publications

LitVar

Other links and lift over

dbSNP: rs2083122; hg19: chr2-224880806;