rs2980928

Variant names:

• chr8-6872897-A-G
• rs2980928
• NM_005218.4:c.62-2071T>C

Your query was ambiguous. Multiple possible variants found:

• chr8-6872897-A-G
• chr8-6872897-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_005218.4(DEFB1):​c.62-2071T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.823 in 152,194 control chromosomes in the GnomAD database, including 51,813 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 0.82 (51813 hom., cov: 32)
• Consequence: DEFB1 NM_005218.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.198
• Publications: 0 publications found

Genes affected

DEFB1 (HGNC:2766): (defensin beta 1) Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]

GS1-24F4.2 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.882 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_005218.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DEFB1	NM_005218.4	MANE Select	c.62-2071T>C		intron	N/A	NP_005209.1	P60022

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DEFB1	ENST00000297439.4	TSL:1 MANE Select	c.62-2071T>C		intron	N/A	ENSP00000297439.3	P60022
	GS1-24F4.2	ENST00000531701.2	TSL:3	n.602-12225A>G		intron	N/A
	GS1-24F4.2	ENST00000655804.2		n.340-284A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.823 AC: 125219 AN: 152076 Hom.: 51776 Cov.: 32

Gnomad AFR AF: 0.890

Gnomad AMI AF: 0.726

Gnomad AMR AF: 0.763

Gnomad ASJ AF: 0.816

Gnomad EAS AF: 0.883

Gnomad SAS AF: 0.856

Gnomad FIN AF: 0.779

Gnomad MID AF: 0.892

Gnomad NFE AF: 0.798

Gnomad OTH AF: 0.840

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

GnomAD4 genome AF: 0.823 AC: 125321 AN: 152194 Hom.: 51813 Cov.: 32 AF XY: 0.823 AC XY: 61220 AN XY: 74412

African (AFR) AF: 0.890 AC: 36952 AN: 41536

American (AMR) AF: 0.763 AC: 11659 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.816 AC: 2830 AN: 3470

East Asian (EAS) AF: 0.883 AC: 4579 AN: 5184

South Asian (SAS) AF: 0.856 AC: 4129 AN: 4824

European-Finnish (FIN) AF: 0.779 AC: 8238 AN: 10580

Middle Eastern (MID) AF: 0.891 AC: 262 AN: 294

European-Non Finnish (NFE) AF: 0.798 AC: 54240 AN: 68002

Other (OTH) AF: 0.838 AC: 1770 AN: 2112

Alfa AF: 0.769 Hom.: 2591

Bravo AF: 0.824

Asia WGS AF: 0.830 AC: 2887 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.9
DANN	Benign	0.63
PhyloP100		-0.20
Mutation Taster		=100/0	polymorphism (auto)

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: rs2980928; hg19: chr8-6730419;