ENST00000370453.5:n.139-69646A>T

Variant names:

• chr1-89563632-T-.
• NM_001369817.2:c.-240-4615T>.

Variant summary

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

The NM_001369817.2(LRRC8B):​c.-240-4615T>. 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: LRRC8B NM_001369817.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

LRRC8B (HGNC:30692): (leucine rich repeat containing 8 VRAC subunit B) Contributes to volume-sensitive anion channel activity. Involved in anion transmembrane transport. Located in cytoplasm and plasma membrane. Is integral component of plasma membrane. Part of ion channel complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001369817.2. 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
	LRRC8B	NM_001369817.2	MANE Select	c.-240-4615T>.		intron	N/A	NP_001356746.1	Q6P9F7
	LRRC8B	NM_001134476.2		c.-240-4615T>.		intron	N/A	NP_001127948.1	A0A384N5V6
	LRRC8B	NM_001369819.2		c.-240-4615T>.		intron	N/A	NP_001356748.1	A0A384N5V6

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	LRRC8B	ENST00000330947.7	TSL:5 MANE Select	c.-240-4615T>.		intron	N/A	ENSP00000332674.2	Q6P9F7
	LRRC8B	ENST00000439853.6	TSL:1	c.-240-4615T>.		intron	N/A	ENSP00000400704.2	A0A7I2RK03
	LRRC8B	ENST00000639264.1	TSL:5	c.-379-4615T>.		intron	N/A	ENSP00000492151.1	Q6P9F7

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 v4.9

Splicing

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

Other links and lift over

hg19: chr1-90029191;