rs3738484

Variant names:

• chr1-150579854-G-A
• rs3738484
• ENST00000702780.2:n.26G>A

Your query was ambiguous. Multiple possible variants found:

• chr1-150579854-G-A
• chr1-150579854-G-T

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The ENST00000702780.2(ENSG00000290074):​n.26G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: 30)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: ENSG00000290074 ENST00000702780.2 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.29
• Publications: 8 publications found

Genes affected

ENSG00000290074 (HGNC:):

MCL1 (HGNC:6943): (MCL1 apoptosis regulator, BCL2 family member) This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.41).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MCL1	NM_021960.5	c.-324C>T		upstream_gene_variant		ENST00000369026.3	NP_068779.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MCL1	ENST00000369026.3	c.-324C>T		upstream_gene_variant		1	NM_021960.5	ENSP00000358022.2

Frequencies

GnomAD3 genomes Cov.: 30

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 140310 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 70508

African (AFR) AF: 0.00 AC: 0 AN: 4852

American (AMR) AF: 0.00 AC: 0 AN: 3920

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 5866

East Asian (EAS) AF: 0.00 AC: 0 AN: 12464

South Asian (SAS) AF: 0.00 AC: 0 AN: 5296

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 6916

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 764

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 90418

Other (OTH) AF: 0.00 AC: 0 AN: 9814

GnomAD4 genome Cov.: 30

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.41
CADD	Benign	14
DANN	Benign	0.88
PhyloP100		2.3
PromoterAI		0.043	Neutral

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs3738484; hg19: chr1-150552330;