11-62615779-C-A

Variant names:

• chr11-62615779-C-A
• rs147883248
• NM_012200.4:c.930G>T

Variant summary

Our verdict is Likely benign. The variant received -1 ACMG points: 2P and 3B. PM2 BP4_Moderate BP7

The NM_012200.4(B3GAT3):​c.930G>T​(p.Arg310Arg) variant causes a synonymous 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. Synonymous variant affecting the same amino acid position (i.e. R310R) has been classified as Likely benign.

• Frequency: Genomes: not found (cov: 33)
• Consequence: B3GAT3 NM_012200.4 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.213
• Publications: 0 publications found

Genes affected

B3GAT3 (HGNC:923): (beta-1,3-glucuronyltransferase 3) The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

B3GAT3 Gene-Disease associations (from GenCC):

• Larsen-like syndrome, B3GAT3 type

  Inheritance: AR Classification: STRONG, MODERATE, SUPPORTIVE, LIMITED Submitted by: Labcorp Genetics (formerly Invitae), Orphanet, G2P, Ambry Genetics
• complex neurodevelopmental disorder

  Inheritance: AD Classification: LIMITED Submitted by: Ambry Genetics

ACMG classification

Our verdict: Likely_benign. The variant received -1 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.32).
• BP7: Synonymous conserved (PhyloP=0.213 with no splicing effect.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_012200.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	B3GAT3	NM_012200.4	MANE Select	c.930G>T	p.Arg310Arg	synonymous	Exon 5 of 5	NP_036332.2
	B3GAT3	NM_001288721.2		c.909G>T	p.Arg303Arg	synonymous	Exon 6 of 6	NP_001275650.1
	B3GAT3	NM_001288722.2		c.*407G>T		3_prime_UTR	Exon 5 of 5	NP_001275651.1	G3V150

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	B3GAT3	ENST00000265471.10	TSL:1 MANE Select	c.930G>T	p.Arg310Arg	synonymous	Exon 5 of 5	ENSP00000265471.5	O94766-1
	B3GAT3	ENST00000532585.5	TSL:1	n.*1052G>T		non_coding_transcript_exon	Exon 6 of 6	ENSP00000432604.1	E9PQ60
	B3GAT3	ENST00000532585.5	TSL:1	n.*1052G>T		3_prime_UTR	Exon 6 of 6	ENSP00000432604.1	E9PQ60

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.32
CADD	Benign	8.3
DANN	Benign	0.79
PhyloP100		0.21
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.7

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.020		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs147883248; hg19: chr11-62383251;