NM_001367801.1:c.3238-5508A>T

Variant names:

• chr10-73261924-T-A
• rs11000566
• NM_001367801.1:c.3238-5508A>T

Variant summary

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

The NM_001367801.1(CFAP70):​c.3238-5508A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.152 in 150,136 control chromosomes in the GnomAD database, including 2,847 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 0.15 (2847 hom., cov: 30)
• Consequence: CFAP70 NM_001367801.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.146
• Publications: 4 publications found

Genes affected

CFAP70 (HGNC:30726): (cilia and flagella associated protein 70) Predicted to be involved in cilium assembly and cilium movement. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Apr 2022]

DNAJC9-AS1 (HGNC:31432): (DNAJC9 and MRPS16 antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.315 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001367801.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CFAP70	NM_001367801.1	MANE Select	c.3238-5508A>T		intron	N/A	NP_001354730.1
	CFAP70	NM_001350933.2		c.3028-5508A>T		intron	N/A	NP_001337862.1
	CFAP70	NM_001350934.2		c.2662-5508A>T		intron	N/A	NP_001337863.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CFAP70	ENST00000355577.9	TSL:5 MANE Select	c.3238-5508A>T		intron	N/A	ENSP00000347781.4
	DNAJC9-AS1	ENST00000440197.2	TSL:1	n.183-10889T>A		intron	N/A
	CFAP70	ENST00000310715.8	TSL:5	c.3028-5508A>T		intron	N/A	ENSP00000310829.4

Frequencies

GnomAD3 genomes AF: 0.152 AC: 22801 AN: 150080 Hom.: 2830 Cov.: 30

Gnomad AFR AF: 0.319

Gnomad AMI AF: 0.107

Gnomad AMR AF: 0.105

Gnomad ASJ AF: 0.130

Gnomad EAS AF: 0.291

Gnomad SAS AF: 0.225

Gnomad FIN AF: 0.0416

Gnomad MID AF: 0.0865

Gnomad NFE AF: 0.0653

Gnomad OTH AF: 0.121

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

GnomAD4 genome AF: 0.152 AC: 22845 AN: 150136 Hom.: 2847 Cov.: 30 AF XY: 0.153 AC XY: 11201 AN XY: 73286

African (AFR) AF: 0.320 AC: 13039 AN: 40768

American (AMR) AF: 0.105 AC: 1582 AN: 15002

Ashkenazi Jewish (ASJ) AF: 0.130 AC: 449 AN: 3466

East Asian (EAS) AF: 0.291 AC: 1489 AN: 5120

South Asian (SAS) AF: 0.224 AC: 1068 AN: 4778

European-Finnish (FIN) AF: 0.0416 AC: 417 AN: 10022

Middle Eastern (MID) AF: 0.0874 AC: 25 AN: 286

European-Non Finnish (NFE) AF: 0.0653 AC: 4423 AN: 67722

Other (OTH) AF: 0.124 AC: 256 AN: 2068

Alfa AF: 0.117 Hom.: 237

Bravo AF: 0.162

Asia WGS AF: 0.260 AC: 901 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.0
DANN	Benign	0.47
PhyloP100		0.15
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: rs11000566; hg19: chr10-75021682;