8-7414857-G-T

Variant names:

• chr8-7414857-G-T
• rs2737912
• NM_001205266.2:c.*104C>A

Variant summary

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

The NM_001205266.2(DEFB4B):​c.*104C>A variant causes a splice region 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: 37)
• Consequence: DEFB4B NM_001205266.2 splice_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29
• Publications: 1 publications found

Genes affected

DEFB4B (HGNC:30193): (defensin beta 4B) 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 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014]

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=-1.0).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001205266.2. 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
	DEFB4B	NM_001205266.2	MANE Select	c.*104C>A		splice_region	Exon 2 of 2	NP_001192195.1
	DEFB4B	NM_001205266.2	MANE Select	c.*104C>A		3_prime_UTR	Exon 2 of 2	NP_001192195.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DEFB4B	ENST00000318157.3	TSL:1 MANE Select	c.*104C>A		splice_region	Exon 2 of 2	ENSP00000424598.1	O15263
	DEFB4B	ENST00000318157.3	TSL:1 MANE Select	c.*104C>A		3_prime_UTR	Exon 2 of 2	ENSP00000424598.1	O15263

Frequencies

GnomAD3 genomes Cov.: 37

GnomAD4 exome Cov.: 34

GnomAD4 genome Cov.: 37

Alfa AF: 0.00 Hom.: 1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.33
PhyloP100		-1.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2737912; hg19: chr8-7272379;