rs3800524

Variant names:

• chr6-167901335-A-C
• rs3800524
• NM_001386888.1:c.1581-982A>C

Your query was ambiguous. Multiple possible variants found:

• chr6-167901335-A-C
• chr6-167901335-A-G
• chr6-167901335-A-T

Variant summary

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

The NM_001386888.1(AFDN):​c.1581-982A>C 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: 31)
• Consequence: AFDN NM_001386888.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.39
• Publications: 2 publications found

Genes affected

AFDN (HGNC:7137): (afadin, adherens junction formation factor) This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

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=-0.92).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001386888.1. 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
	AFDN	NM_001386888.1	MANE Select	c.1581-982A>C		intron	N/A	NP_001373817.1	A0A804HJ20
	AFDN	NM_001366320.2		c.1581-982A>C		intron	N/A	NP_001353249.1	P55196-4
	AFDN	NM_001366319.2		c.1581-982A>C		intron	N/A	NP_001353248.1	A0A1P7ZIN0

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	AFDN	ENST00000683244.1	MANE Select	c.1581-982A>C		intron	N/A	ENSP00000507324.1	A0A804HJ20
	AFDN	ENST00000366806.6	TSL:1	c.1458-982A>C		intron	N/A	ENSP00000355771.3	A8MQ02
	AFDN	ENST00000392108.7	TSL:1	c.1581-982A>C		intron	N/A	ENSP00000375956.3	P55196-6

Frequencies

GnomAD3 genomes Cov.: 31

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

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.36
DANN	Benign	0.28
PhyloP100		-1.4

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: rs3800524; hg19: chr6-168302015;