rs7209891

Variant names:

• chr17-56213790-A-C
• rs7209891
• NM_001370326.1:c.12+1111A>C

Your query was ambiguous. Multiple possible variants found:

• chr17-56213790-A-C
• chr17-56213790-A-T

Variant summary

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

The NM_001370326.1(ANKFN1):​c.12+1111A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.371 in 152,104 control chromosomes in the GnomAD database, including 12,339 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 0.37 (12339 hom., cov: 33)
• Consequence: ANKFN1 NM_001370326.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.20
• Publications: 7 publications found

Genes affected

ANKFN1 (HGNC:26766): (ankyrin repeat and fibronectin type III domain containing 1) Predicted to be involved in establishment of mitotic spindle orientation and regulation of establishment of bipolar cell polarity. Predicted to act upstream of or within behavioral fear response; equilibrioception; and locomotor rhythm. Predicted to be active in spindle. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.598 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001370326.1. 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
	ANKFN1	NM_001370326.1	MANE Select	c.12+1111A>C		intron	N/A	NP_001357255.1	Q8N957-1
	ANKFN1	NM_001365758.1		c.-192-14127A>C		intron	N/A	NP_001352687.1
	ANKFN1	NM_153228.3		c.22-14127A>C		intron	N/A	NP_694960.2	Q8N957-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANKFN1	ENST00000682825.1	MANE Select	c.12+1111A>C		intron	N/A	ENSP00000507365.1	Q8N957-1
	ANKFN1	ENST00000653862.1		c.463-14127A>C		intron	N/A	ENSP00000499705.1	A0A590UK59
	ANKFN1	ENST00000635860.2	TSL:5	c.289-14127A>C		intron	N/A	ENSP00000489811.2	A0A1B0GTR8

Frequencies

GnomAD3 genomes AF: 0.370 AC: 56244 AN: 151986 Hom.: 12303 Cov.: 33

Gnomad AFR AF: 0.604

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.436

Gnomad ASJ AF: 0.226

Gnomad EAS AF: 0.428

Gnomad SAS AF: 0.252

Gnomad FIN AF: 0.309

Gnomad MID AF: 0.266

Gnomad NFE AF: 0.237

Gnomad OTH AF: 0.336

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

GnomAD4 genome AF: 0.371 AC: 56357 AN: 152104 Hom.: 12339 Cov.: 33 AF XY: 0.371 AC XY: 27600 AN XY: 74350

African (AFR) AF: 0.604 AC: 25070 AN: 41480

American (AMR) AF: 0.437 AC: 6672 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.226 AC: 782 AN: 3466

East Asian (EAS) AF: 0.429 AC: 2213 AN: 5164

South Asian (SAS) AF: 0.254 AC: 1220 AN: 4810

European-Finnish (FIN) AF: 0.309 AC: 3276 AN: 10586

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.237 AC: 16147 AN: 68000

Other (OTH) AF: 0.341 AC: 719 AN: 2110

Alfa AF: 0.278 Hom.: 28432

Bravo AF: 0.395

Asia WGS AF: 0.354 AC: 1232 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	8.1
DANN	Benign	0.77
PhyloP100		1.2
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: rs7209891; hg19: chr17-54291151;