19-18103711-T-C

Variant names:

• chr19-18103711-T-C
• rs11668601
• NM_001393504.1:c.40-3876T>C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001393504.1(MAST3):​c.40-3876T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.178 in 152,146 control chromosomes in the GnomAD database, including 3,016 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 0.18 (3016 hom., cov: 31)
• Consequence: MAST3 NM_001393504.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.402

Genes affected

MAST3 (HGNC:19036): (microtubule associated serine/threonine kinase 3) Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization; intracellular signal transduction; and peptidyl-serine phosphorylation. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.247 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MAST3	NM_001393504.1	c.40-3876T>C		intron_variant	Intron 1 of 27	ENST00000687212.1	NP_001380433.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MAST3	ENST00000687212.1	c.40-3876T>C		intron_variant	Intron 1 of 27		NM_001393504.1	ENSP00000509890.1
MAST3	ENST00000262811.10	c.40-3876T>C		intron_variant	Intron 1 of 26	1		ENSP00000262811.4
MAST3	ENST00000697700.2	c.40-3876T>C		intron_variant	Intron 1 of 24			ENSP00000513407.2
MAST3	ENST00000704363.1	c.40-3876T>C		intron_variant	Intron 1 of 23			ENSP00000515871.1

Frequencies

GnomAD3 genomes AF: 0.178 AC: 27129 AN: 152028 Hom.: 3014 Cov.: 31

Gnomad AFR AF: 0.0439

Gnomad AMI AF: 0.185

Gnomad AMR AF: 0.166

Gnomad ASJ AF: 0.253

Gnomad EAS AF: 0.122

Gnomad SAS AF: 0.165

Gnomad FIN AF: 0.267

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.250

Gnomad OTH AF: 0.200

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

GnomAD4 genome AF: 0.178 AC: 27129 AN: 152146 Hom.: 3016 Cov.: 31 AF XY: 0.179 AC XY: 13322 AN XY: 74364

Gnomad4 AFR AF: 0.0438

Gnomad4 AMR AF: 0.166

Gnomad4 ASJ AF: 0.253

Gnomad4 EAS AF: 0.122

Gnomad4 SAS AF: 0.167

Gnomad4 FIN AF: 0.267

Gnomad4 NFE AF: 0.250

Gnomad4 OTH AF: 0.197

Alfa AF: 0.130 Hom.: 240

Bravo AF: 0.167

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.2
DANN	Benign	0.70

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

Publications

LitVar

Other links and lift over

dbSNP: rs11668601; hg19: chr19-18214521;