NM_001369789.1:c.2075+1482G>A

Variant names:

• chr19-1374642-G-A
• rs6510605
• NM_001369789.1:c.2075+1482G>A

Variant summary

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

The NM_001369789.1(PWWP3A):​c.2075+1482G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0719 in 152,248 control chromosomes in the GnomAD database, including 541 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 0.072 (541 hom., cov: 31)
• Consequence: PWWP3A NM_001369789.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.588
• Publications: 6 publications found

Genes affected

PWWP3A (HGNC:29641): (PWWP domain containing 3A, DNA repair factor) Enables nucleosome binding activity. Involved in DNA repair and chromatin organization. Located in cytosol and nucleoplasm. [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=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.108 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001369789.1. 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
	PWWP3A	NM_001369789.1	MANE Select	c.2075+1482G>A		intron	N/A	NP_001356718.1
	PWWP3A	NM_001369790.1		c.2177+593G>A		intron	N/A	NP_001356719.1
	PWWP3A	NM_001382408.1		c.2111+1482G>A		intron	N/A	NP_001369337.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PWWP3A	ENST00000591337.7	TSL:2 MANE Select	c.2075+1482G>A		intron	N/A	ENSP00000467287.4
	PWWP3A	ENST00000415183.7	TSL:1	c.*36+1482G>A		intron	N/A	ENSP00000394925.3
	PWWP3A	ENST00000591806.6	TSL:1	c.2075+1482G>A		intron	N/A	ENSP00000467083.2

Frequencies

GnomAD3 genomes AF: 0.0720 AC: 10952 AN: 152130 Hom.: 541 Cov.: 31

Gnomad AFR AF: 0.0189

Gnomad AMI AF: 0.0943

Gnomad AMR AF: 0.0438

Gnomad ASJ AF: 0.0613

Gnomad EAS AF: 0.000770

Gnomad SAS AF: 0.0470

Gnomad FIN AF: 0.126

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.110

Gnomad OTH AF: 0.0617

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

GnomAD4 genome AF: 0.0719 AC: 10951 AN: 152248 Hom.: 541 Cov.: 31 AF XY: 0.0706 AC XY: 5254 AN XY: 74440

African (AFR) AF: 0.0189 AC: 785 AN: 41554

American (AMR) AF: 0.0437 AC: 669 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0613 AC: 213 AN: 3472

East Asian (EAS) AF: 0.000772 AC: 4 AN: 5180

South Asian (SAS) AF: 0.0474 AC: 229 AN: 4830

European-Finnish (FIN) AF: 0.126 AC: 1338 AN: 10592

Middle Eastern (MID) AF: 0.0476 AC: 14 AN: 294

European-Non Finnish (NFE) AF: 0.110 AC: 7485 AN: 68004

Other (OTH) AF: 0.0605 AC: 128 AN: 2114

Alfa AF: 0.0787 Hom.: 647

Bravo AF: 0.0638

Asia WGS AF: 0.0170 AC: 59 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.9
DANN	Benign	0.53
PhyloP100		0.59
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: rs6510605; hg19: chr19-1374641;