ENST00000551774.1:c.597-3249C>A

Variant names:

• chr14-35864782-A-.
• NM_032352.4:c.623-153A>.

Variant summary

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

The ENST00000551774.1(BRMS1L):​c.365-153A>. 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: BRMS1L ENST00000551774.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

BRMS1L (HGNC:20512): (BRMS1 like transcriptional repressor) The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]

ACMG classification

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRMS1L	NM_032352.4	c.623-153A>.		intron_variant	Intron 6 of 9	ENST00000216807.12	NP_115728.2
BRMS1L	XM_005268128.2	c.623-153A>.		intron_variant	Intron 6 of 9		XP_005268185.1
BRMS1L	XM_047431806.1	c.479-153A>.		intron_variant	Intron 8 of 11		XP_047287762.1
BRMS1L	XM_017021705.1	c.479-153A>.		intron_variant	Intron 6 of 9		XP_016877194.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRMS1L	ENST00000216807.12	c.623-153A>.		intron_variant	Intron 6 of 9	1	NM_032352.4	ENSP00000216807.6
BRMS1L	ENST00000551774.1	c.365-153A>.		intron_variant	Intron 4 of 7	1		ENSP00000446826.1
BRMS1L	ENST00000548758.1	n.683-153A>.		intron_variant	Intron 6 of 7	1
BRMS1L	ENST00000552677.5	n.*589-153A>.		intron_variant	Intron 7 of 10	2		ENSP00000448615.1

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: chr14-36333988;