rs2957518

Variant names:

• chr11-34133094-C-G
• rs2957518
• NM_024662.3:c.1686C>G

Your query was ambiguous. Multiple possible variants found:

• chr11-34133094-C-G
• chr11-34133094-C-T

Variant summary

Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2 BP4_Strong BP7

The NM_024662.3(NAT10):​c.1686C>G​(p.Pro562Pro) variant causes a synonymous 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. Synonymous variant affecting the same amino acid position (i.e. P562P) has been classified as Benign.

• Frequency: Genomes: not found (cov: 32)
• Consequence: NAT10 NM_024662.3 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -5.24
• Publications: 21 publications found

Genes affected

NAT10 (HGNC:29830): (N-acetyltransferase 10) The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]

ACMG classification

Our verdict: Likely_benign. The variant received -3 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.74).
• BP7: Synonymous conserved (PhyloP=-5.24 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NAT10	NM_024662.3	c.1686C>G	p.Pro562Pro	synonymous_variant	Exon 16 of 29	ENST00000257829.8	NP_078938.3
NAT10	NM_001144030.2	c.1470C>G	p.Pro490Pro	synonymous_variant	Exon 14 of 27		NP_001137502.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NAT10	ENST00000257829.8	c.1686C>G	p.Pro562Pro	synonymous_variant	Exon 16 of 29	1	NM_024662.3	ENSP00000257829.3
NAT10	ENST00000531159.6	c.1470C>G	p.Pro490Pro	synonymous_variant	Exon 14 of 27	2		ENSP00000433011.2
NAT10	ENST00000527971.5	c.781-13012C>G		intron_variant	Intron 7 of 7	2		ENSP00000437324.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 53

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	0.096
DANN	Benign	0.56
PhyloP100		-5.2

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: rs2957518; hg19: chr11-34154641;