rs553651747

Variant names:

• chr19-49646155-C-A
• NM_021228.3:c.214C>A

Your query was ambiguous. Multiple possible variants found:

• chr19-49646155-C-A
• chr19-49646155-C-G
• chr19-49646155-C-T

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_021228.3(SCAF1):​c.214C>A​(p.Arg72Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,292 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: 6.9e-7 (0 hom.)
• Consequence: SCAF1 NM_021228.3 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.759

Genes affected

SCAF1 (HGNC:30403): (SR-related CTD associated factor 1) Enables RNA polymerase II C-terminal domain binding activity. Predicted to be involved in RNA splicing; mRNA processing; and transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SCAF1	NM_021228.3	c.214C>A	p.Arg72Arg	synonymous_variant	Exon 4 of 11	ENST00000360565.8	NP_067051.2
SCAF1	XM_011527194.4	c.223C>A	p.Arg75Arg	synonymous_variant	Exon 4 of 11		XP_011525496.1
SCAF1	XM_005259122.6	c.214C>A	p.Arg72Arg	synonymous_variant	Exon 4 of 11		XP_005259179.1
SCAF1	XM_017027083.3	c.-89C>A		5_prime_UTR_variant	Exon 1 of 8		XP_016882572.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SCAF1	ENST00000360565.8	c.214C>A	p.Arg72Arg	synonymous_variant	Exon 4 of 11	2	NM_021228.3	ENSP00000353769.2
SCAF1	ENST00000598359.5	c.214C>A	p.Arg72Arg	synonymous_variant	Exon 4 of 7	3		ENSP00000473210.1
SCAF1	ENST00000595242.3	c.214C>A	p.Arg72Arg	synonymous_variant	Exon 3 of 4	3		ENSP00000472276.1
SCAF1	ENST00000601038.5	c.214C>A	p.Arg72Arg	synonymous_variant	Exon 3 of 4	3		ENSP00000472649.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome AF: 6.85e-7 AC: 1 AN: 1459292 Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0 AN XY: 726042

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 8.99e-7

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.15
CADD	Benign	19
DANN	Benign	0.77
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.50		Details are displayed if max score is > 0.2
DS_DG_spliceai		0.50		Position offset: 1

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr19-50149412;