16-23333099-AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGG-A

Position:

• chr16-23333099-AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGG-A

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_000336.3(SCNN1B):​c.-8-15491_-8-15437delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (no stars).

• Frequency: Genomes: not found (cov: 18)
• Consequence: SCNN1B NM_000336.3 intron
• Clinical Significance: Uncertain significance no assertion criteria provided U:1
• Conservation: PhyloP100: 0.0640

Genes affected

SCNN1B (HGNC:10600): (sodium channel epithelial 1 subunit beta) Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

SCNN1B (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SCNN1B	NM_000336.3	c.-8-15491_-8-15437delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA		intron_variant		ENST00000343070.7	NP_000327.2
SCNN1B	NM_001410900.1	c.-8-15491_-8-15437delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA		intron_variant			NP_001397829.1
SCNN1B	XM_017023525.2	c.50-15491_50-15437delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA		intron_variant			XP_016879014.1
SCNN1B	XM_011545913.3	c.25+9523_25+9577delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA		intron_variant			XP_011544215.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SCNN1B	ENST00000343070.7	c.-8-15491_-8-15437delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA		intron_variant		1	NM_000336.3	ENSP00000345751.2
SCNN1B	ENST00000307331.9	c.127+9523_127+9577delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA		intron_variant		5		ENSP00000302874.5
SCNN1B	ENST00000569789.1	n.179-15491_179-15437delGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA		intron_variant		4

Frequencies

GnomAD3 genomes Cov.: 18

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

GnomAD4 genome Cov.: 18

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: no assertion criteria provided

Submissions by phenotype

Schizophrenia Uncertain:1

Uncertain significance, no assertion criteria provided

case-control

Department of Psychiatry, The University of Hong Kong

Nov 11, 2022

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Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr16-23344420;