20-20171937-G-T

Variant names:

• chr20-20171937-G-T
• rs2328500
• ENST00000451767.6:c.*129G>T

Variant summary

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

The ENST00000451767.6(CFAP61):​c.*129G>T variant causes a 3 prime UTR 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: 29)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: CFAP61 ENST00000451767.6 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.285
• Publications: 6 publications found

Genes affected

CFAP61 (HGNC:15872): (cilia and flagella associated protein 61) Predicted to be involved in cilium movement and cilium organization. Predicted to be located in axoneme and motile cilium. Predicted to colocalize with radial spoke stalk. [provided by Alliance of Genome Resources, Apr 2022]

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=-0.86).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CFAP61	NM_015585.4	c.1385+2477G>T		intron_variant	Intron 13 of 26	ENST00000245957.10	NP_056400.3
CFAP61	NM_001167816.1	c.*129G>T		3_prime_UTR_variant	Exon 13 of 13		NP_001161288.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CFAP61	ENST00000245957.10	c.1385+2477G>T		intron_variant	Intron 13 of 26	1	NM_015585.4	ENSP00000245957.5

Frequencies

GnomAD3 genomes Cov.: 29

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 341628 Hom.: 0 Cov.: 2 AF XY: 0.00 AC XY: 0 AN XY: 178678

African (AFR) AF: 0.00 AC: 0 AN: 8268

American (AMR) AF: 0.00 AC: 0 AN: 9374

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 11122

East Asian (EAS) AF: 0.00 AC: 0 AN: 24816

South Asian (SAS) AF: 0.00 AC: 0 AN: 21104

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 39144

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3264

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 204296

Other (OTH) AF: 0.00 AC: 0 AN: 20240

GnomAD4 genome Cov.: 29

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.1
DANN	Benign	0.83
PhyloP100		-0.28

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: rs2328500; hg19: chr20-20152581;