13-30908057-G-C

Position:

• chr13-30908057-G-C

Variant summary

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

The NM_032849.4(MEDAG):​c.278+1264G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.294 in 152,034 control chromosomes in the GnomAD database, including 6,696 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 0.29 (6696 hom., cov: 33)
• Consequence: MEDAG NM_032849.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.156

Genes affected

MEDAG (HGNC:25926): (mesenteric estrogen dependent adipogenesis) Predicted to be involved in positive regulation of fat cell differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TEX26-AS1 (HGNC:42784): (TEX26 antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.325 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MEDAG	NM_032849.4	c.278+1264G>C		intron_variant		ENST00000380482.9
TEX26-AS1	NR_038287.1	n.1437+22744C>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MEDAG	ENST00000380482.9	c.278+1264G>C		intron_variant		1	NM_032849.4	P1
TEX26-AS1	ENST00000585870.6	n.1437+22744C>G		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.294 AC: 44722 AN: 151916 Hom.: 6689 Cov.: 33

Gnomad AFR AF: 0.316

Gnomad AMI AF: 0.222

Gnomad AMR AF: 0.332

Gnomad ASJ AF: 0.224

Gnomad EAS AF: 0.237

Gnomad SAS AF: 0.328

Gnomad FIN AF: 0.325

Gnomad MID AF: 0.231

Gnomad NFE AF: 0.275

Gnomad OTH AF: 0.273

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

GnomAD4 genome AF: 0.294 AC: 44761 AN: 152034 Hom.: 6696 Cov.: 33 AF XY: 0.297 AC XY: 22034 AN XY: 74312

Gnomad4 AFR AF: 0.316

Gnomad4 AMR AF: 0.333

Gnomad4 ASJ AF: 0.224

Gnomad4 EAS AF: 0.238

Gnomad4 SAS AF: 0.326

Gnomad4 FIN AF: 0.325

Gnomad4 NFE AF: 0.275

Gnomad4 OTH AF: 0.274

Alfa AF: 0.159 Hom.: 325

Bravo AF: 0.294

Asia WGS AF: 0.301 AC: 1047 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	3.5
DANN	Benign	0.39

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs1343946; hg19: chr13-31482194; COSMIC: COSV66850807; COSMIC: COSV66850807;