rs1199964

Variant names:

• chr13-37058514-G-A
• rs1199964
• NM_001014286.3:c.-94+1045C>T

Variant summary

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

The NM_001014286.3(SUPT20H):​c.-94+1045C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0717 in 152,150 control chromosomes in the GnomAD database, including 1,327 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 (1327 hom., cov: 32)
• Consequence: SUPT20H NM_001014286.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23
• Publications: 1 publications found

Genes affected

SUPT20H (HGNC:20596): (SPT20 homolog, SAGA complex component) Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of gluconeogenesis and positive regulation of transcription by RNA polymerase II. Part of SAGA-type complex. [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=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.245 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001014286.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SUPT20H	NM_001014286.3	MANE Select	c.-94+1045C>T		intron	N/A	NP_001014308.2	Q8NEM7-1
	SUPT20H	NM_001278480.2		c.-94+1045C>T		intron	N/A	NP_001265409.1	Q8NEM7-3
	SUPT20H	NM_001278481.2		c.-94+1045C>T		intron	N/A	NP_001265410.1	Q8NEM7-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SUPT20H	ENST00000350612.11	TSL:1 MANE Select	c.-94+1045C>T		intron	N/A	ENSP00000218894.10	Q8NEM7-1
	SUPT20H	ENST00000475892.5	TSL:1	c.-94+1045C>T		intron	N/A	ENSP00000417510.1	Q8NEM7-3
	SUPT20H	ENST00000356185.7	TSL:1	c.-94+966C>T		intron	N/A	ENSP00000348512.3	Q8NEM7-2

Frequencies

GnomAD3 genomes AF: 0.0715 AC: 10876 AN: 152032 Hom.: 1316 Cov.: 32

Gnomad AFR AF: 0.249

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0264

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00124

Gnomad FIN AF: 0.0000943

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.000867

Gnomad OTH AF: 0.0492

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

GnomAD4 genome AF: 0.0717 AC: 10913 AN: 152150 Hom.: 1327 Cov.: 32 AF XY: 0.0695 AC XY: 5171 AN XY: 74382

African (AFR) AF: 0.249 AC: 10337 AN: 41434

American (AMR) AF: 0.0263 AC: 403 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3466

East Asian (EAS) AF: 0.00 AC: 0 AN: 5184

South Asian (SAS) AF: 0.00104 AC: 5 AN: 4824

European-Finnish (FIN) AF: 0.0000943 AC: 1 AN: 10600

Middle Eastern (MID) AF: 0.0170 AC: 5 AN: 294

European-Non Finnish (NFE) AF: 0.000867 AC: 59 AN: 68022

Other (OTH) AF: 0.0487 AC: 103 AN: 2114

Alfa AF: 0.0744 Hom.: 150

Bravo AF: 0.0821

Asia WGS AF: 0.0160 AC: 57 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.94
DANN	Benign	0.52
PhyloP100		-1.2
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: rs1199964; hg19: chr13-37632651;