rs9525291

Variant names:

• chr13-114179053-T-A
• rs9525291
• ENST00000643687.1:c.-268-10T>A

Your query was ambiguous. Multiple possible variants found:

• chr13-114179053-T-A
• chr13-114179053-T-C
• chr13-114179053-T-G

Variant summary

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

The ENST00000643687.1(CFAP97D2):​c.-268-10T>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: 30)
• Consequence: CFAP97D2 ENST00000643687.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.656
• Publications: 5 publications found

Genes affected

CFAP97D2 (HGNC:53789): (CFAP97 domain containing 2)

ENSG00000283347 (HGNC:):

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=-0.8).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000643687.1. 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
	CFAP97D2	NM_001395229.1	MANE Select	c.-278T>A		upstream_gene	N/A	NP_001382158.1	A0A1B0GU71
	CFAP97D2	NM_001437370.1		c.-278T>A		upstream_gene	N/A	NP_001424299.1	A0A2R8Y7J0
	CFAP97D2	NM_001395230.1		c.-278T>A		upstream_gene	N/A	NP_001382159.1	A0A1B0GV50

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CFAP97D2	ENST00000643687.1		c.-268-10T>A		intron	N/A	ENSP00000496288.1	A0A2R8Y7P9
	ENSG00000283347	ENST00000637433.1	TSL:4	n.415-3408A>T		intron	N/A
	CFAP97D2	ENST00000636692.2	TSL:5 MANE Select	c.-278T>A		upstream_gene	N/A	ENSP00000489989.1	A0A1B0GU71

Frequencies

GnomAD3 genomes Cov.: 30

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 30

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	1.5
DANN	Benign	0.75
PhyloP100		-0.66
PromoterAI		-0.060	Neutral

Splicing

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

Other links and lift over

dbSNP: rs9525291; hg19: chr13-114944528;