1-46652272-C-A

Variant names:

• chr1-46652272-C-A
• rs631840
• NM_001394565.1:c.588+309G>T

Variant summary

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

The NM_001394565.1(ATPAF1):​c.588+309G>T 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)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: ATPAF1 NM_001394565.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.231
• Publications: 2 publications found

Genes affected

ATPAF1 (HGNC:18803): (ATP synthase mitochondrial F1 complex assembly factor 1) This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 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=-0.91).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001394565.1. 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
	ATPAF1	NM_001394565.1	MANE Select	c.588+309G>T		intron	N/A	NP_001381494.1
	ATPAF1	NM_022745.6		c.657+309G>T		intron	N/A	NP_073582.3
	ATPAF1	NM_001042546.2		c.657+309G>T		intron	N/A	NP_001036011.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ATPAF1	ENST00000574428.6	TSL:1 MANE Select	c.588+309G>T		intron	N/A	ENSP00000459167.2
	ATPAF1	ENST00000576409.5	TSL:1	c.657+309G>T		intron	N/A	ENSP00000460964.1
	ATPAF1	ENST00000329231.8	TSL:2	c.657+309G>T		intron	N/A	ENSP00000330685.4

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 86806 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 43972

African (AFR) AF: 0.00 AC: 0 AN: 2806

American (AMR) AF: 0.00 AC: 0 AN: 3440

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3736

East Asian (EAS) AF: 0.00 AC: 0 AN: 6352

South Asian (SAS) AF: 0.00 AC: 0 AN: 1462

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 4934

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 450

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 57576

Other (OTH) AF: 0.00 AC: 0 AN: 6050

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	5.0
DANN	Benign	0.50
PhyloP100		0.23

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: rs631840; hg19: chr1-47117944;