9-109098517-C-T

Position:

• chr9-109098517-C-T

Variant summary

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

The NM_032012.4(TMEM245):​c.800-4926G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.901 in 151,796 control chromosomes in the GnomAD database, including 61,750 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 0.90 (61750 hom., cov: 28)
• Consequence: TMEM245 NM_032012.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.111

Genes affected

TMEM245 (HGNC:1363): (transmembrane protein 245) Predicted to be integral component of membrane. [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=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.951 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TMEM245	NM_032012.4	c.800-4926G>A		intron_variant		ENST00000374586.8	NP_114401.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TMEM245	ENST00000374586.8	c.800-4926G>A		intron_variant		1	NM_032012.4	ENSP00000363714.3
TMEM245	ENST00000413712.7	c.800-4926G>A		intron_variant		2		ENSP00000394798.3
TMEM245	ENST00000491854.1	n.50-4926G>A		intron_variant		2		ENSP00000417842.1

Frequencies

GnomAD3 genomes AF: 0.901 AC: 136641 AN: 151680 Hom.: 61705 Cov.: 28

Gnomad AFR AF: 0.958

Gnomad AMI AF: 0.836

Gnomad AMR AF: 0.905

Gnomad ASJ AF: 0.902

Gnomad EAS AF: 0.871

Gnomad SAS AF: 0.757

Gnomad FIN AF: 0.905

Gnomad MID AF: 0.883

Gnomad NFE AF: 0.878

Gnomad OTH AF: 0.905

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

GnomAD4 genome AF: 0.901 AC: 136742 AN: 151796 Hom.: 61750 Cov.: 28 AF XY: 0.899 AC XY: 66705 AN XY: 74206

Gnomad4 AFR AF: 0.958

Gnomad4 AMR AF: 0.904

Gnomad4 ASJ AF: 0.902

Gnomad4 EAS AF: 0.871

Gnomad4 SAS AF: 0.756

Gnomad4 FIN AF: 0.905

Gnomad4 NFE AF: 0.878

Gnomad4 OTH AF: 0.904

Alfa AF: 0.880 Hom.: 30096

Bravo AF: 0.906

Asia WGS AF: 0.828 AC: 2880 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	12
DANN	Benign	0.69

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: rs1519466; hg19: chr9-111860797;