chr13-36846473-CAA-C

Position:

• chr13-36846473-CAA-C

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001127217.3(SMAD9):​c.*2201_*2202del variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).

• Frequency:
  • Genomes: 𝑓 0.44 (4580 hom., cov: 0)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: SMAD9 NM_001127217.3 3_prime_UTR
• Clinical Significance: Uncertain significance criteria provided, single submitter U:1
• Conservation: PhyloP100: 0.397

Genes affected

SMAD9 (HGNC:6774): (SMAD family member 9) The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SMAD9	NM_001127217.3	c.*2201_*2202del		3_prime_UTR_variant	7/7	ENST00000379826.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SMAD9	ENST00000379826.5	c.*2201_*2202del		3_prime_UTR_variant	7/7	5	NM_001127217.3	P1

Frequencies

GnomAD3 genomes AF: 0.00 AC: 34042 AN: 77872 Hom.: 4584 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.288

Gnomad AMI AF: 0.514

Gnomad AMR AF: 0.543

Gnomad ASJ AF: 0.398

Gnomad EAS AF: 0.411

Gnomad SAS AF: 0.440

Gnomad FIN AF: 0.548

Gnomad MID AF: 0.407

Gnomad NFE AF: 0.496

Gnomad OTH AF: 0.431

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 2 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 2

Gnomad4 NFE exome AF: 0.00

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.437 AC: 34029 AN: 77868 Hom.: 4580 Cov.: 0 AF XY: 0.440 AC XY: 15738 AN XY: 35788

Gnomad4 AFR AF: 0.288

Gnomad4 AMR AF: 0.543

Gnomad4 ASJ AF: 0.398

Gnomad4 EAS AF: 0.411

Gnomad4 SAS AF: 0.439

Gnomad4 FIN AF: 0.548

Gnomad4 NFE AF: 0.496

Gnomad4 OTH AF: 0.431

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: criteria provided, single submitter

Submissions by phenotype

Pulmonary hypertension, primary, 1 Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

Illumina Laboratory Services, Illumina

Jun 14, 2016

- -

Computational scores

Source: dbNSFP v4.3

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: rs10579121; hg19: chr13-37420610;