11-10303778-C-G

Variant names:

• chr11-10303778-C-G
• rs11042725
• NM_001424318.1:c.-485G>C

Variant summary

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

The NM_001424318.1(SBF2):​c.-485G>C variant causes a 5 prime UTR premature start codon gain 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: 33)
• Consequence: SBF2 NM_001424318.1 5_prime_UTR_premature_start_codon_gain
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.349
• Publications: 17 publications found

Genes affected

SBF2 (HGNC:2135): (SET binding factor 2) This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]

ADM-DT (HGNC:55516): (ADM divergent transcript)

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=-0.78).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SBF2	NM_001424318.1	c.-485G>C		5_prime_UTR_premature_start_codon_gain_variant	Exon 1 of 41		NP_001411247.1
SBF2	NM_001424318.1	c.-485G>C		5_prime_UTR_variant	Exon 1 of 41		NP_001411247.1
SBF2	NM_001425070.1	c.-3+722G>C		intron_variant	Intron 1 of 40		NP_001411999.1
SBF2	NM_001425069.1	c.-3+722G>C		intron_variant	Intron 1 of 39		NP_001411998.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ADM-DT	ENST00000526906.2	n.79G>C		non_coding_transcript_exon_variant	Exon 1 of 2	2
ADM-DT	ENST00000847672.1	n.77G>C		non_coding_transcript_exon_variant	Exon 1 of 1
ADM-DT	ENST00000847673.1	n.132G>C		non_coding_transcript_exon_variant	Exon 1 of 3

Frequencies

GnomAD3 genomes Cov.: 33

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

GnomAD4 genome Cov.: 33

Alfa AF: 0.00 Hom.: 24944

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	5.7
DANN	Benign	0.24
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs11042725; hg19: chr11-10325325;