ENST00000572628.5:c.525+13959G>C

Variant names:

• chr16-30874902-G-.
• ENST00000572628.5:c.525+13958C>.

Variant summary

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

The ENST00000572628.5(BCL7C):​c.525+13958C>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: BCL7C ENST00000572628.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

BCL7C (HGNC:1006): (BAF chromatin remodeling complex subunit BCL7C) This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ACMG classification

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BCL7C	NM_001286526.2	c.528+13958C>.		intron_variant	Intron 5 of 5		NP_001273455.1
BCL7C	XM_047434896.1	c.621+5322C>.		intron_variant	Intron 6 of 6		XP_047290852.1
BCL7C	XM_011545980.4	c.528+13958C>.		intron_variant	Intron 5 of 5		XP_011544282.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BCL7C	ENST00000572628.5	c.525+13958C>.		intron_variant	Intron 5 of 5	1		ENSP00000459007.1
BCL7C	ENST00000380317.8	c.528+13958C>.		intron_variant	Intron 5 of 5	1		ENSP00000369674.4
BCL7C	ENST00000574418.5	n.*71+13958C>.		intron_variant	Intron 4 of 4	5		ENSP00000461177.1

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Other links and lift over

hg19: chr16-30886223;