ENST00000568194.5:n.1909T>G

Variant names:

• chr16-2209190-T-G
• rs3160
• ENST00000568194.5:n.1909T>G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000568194.5(MLST8):​n.1909T>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 537,184 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: 33)
  • Exomes 𝑓: 0.0000037 (0 hom.)
• Consequence: MLST8 ENST00000568194.5 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.74
• Publications: 0 publications found

Genes affected

MLST8 (HGNC:24825): (MTOR associated protein, LST8 homolog) Enables protein serine/threonine kinase activator activity. Involved in TORC1 signaling; positive regulation of TOR signaling; and regulation of actin cytoskeleton organization. Part of TORC1 complex and TORC2 complex. [provided by Alliance of Genome Resources, Apr 2022]

BRICD5 (HGNC:28309): (BRICHOS domain containing 5) Predicted to be involved in regulation of cell population proliferation. Predicted to be integral component of membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000568194.5. 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
	MLST8	NM_022372.6	MANE Select	c.*313T>G		3_prime_UTR	Exon 9 of 9	NP_071767.3
	MLST8	NR_147904.2		n.2057T>G		non_coding_transcript_exon	Exon 9 of 9
	MLST8	NR_147905.2		n.2087T>G		non_coding_transcript_exon	Exon 9 of 9

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MLST8	ENST00000568194.5	TSL:1	n.1909T>G		non_coding_transcript_exon	Exon 8 of 8
	MLST8	ENST00000568542.5	TSL:1	n.1662T>G		non_coding_transcript_exon	Exon 8 of 8
	MLST8	ENST00000569417.6	TSL:1 MANE Select	c.*313T>G		3_prime_UTR	Exon 9 of 9	ENSP00000456405.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome AF: 0.00000372 AC: 2 AN: 537184 Hom.: 0 Cov.: 6 AF XY: 0.00000716 AC XY: 2 AN XY: 279338

African (AFR) AF: 0.00 AC: 0 AN: 14030

American (AMR) AF: 0.00 AC: 0 AN: 19748

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 14286

East Asian (EAS) AF: 0.00 AC: 0 AN: 31636

South Asian (SAS) AF: 0.00 AC: 0 AN: 48172

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 30718

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 2162

European-Non Finnish (NFE) AF: 0.00000576 AC: 2 AN: 347390

Other (OTH) AF: 0.00 AC: 0 AN: 29042

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.30
DANN	Benign	0.40
PhyloP100		-1.7

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: rs3160; hg19: chr16-2259191;