chr16-23380404-C-T
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000336.3(SCNN1B):c.1543-17C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00822 in 1,614,002 control chromosomes in the GnomAD database, including 66 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000336.3 intron
Scores
Clinical Significance
Conservation
Publications
- Liddle syndrome 1Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae)
- pseudohypoaldosteronism, type IB2, autosomal recessiveInheritance: AR Classification: DEFINITIVE Submitted by: Ambry Genetics
- bronchiectasis with or without elevated sweat chloride 1Inheritance: AD, SD Classification: STRONG, LIMITED Submitted by: PanelApp Australia, Ambry Genetics
- pseudohypoaldosteronism, type IB1, autosomal recessiveInheritance: AR Classification: STRONG, SUPPORTIVE Submitted by: Orphanet, Labcorp Genetics (formerly Invitae)
- Liddle syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00705 AC: 1073AN: 152212Hom.: 10 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00642 AC: 1611AN: 250898 AF XY: 0.00649 show subpopulations
GnomAD4 exome AF: 0.00835 AC: 12201AN: 1461672Hom.: 56 Cov.: 32 AF XY: 0.00830 AC XY: 6038AN XY: 727144 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00704 AC: 1072AN: 152330Hom.: 10 Cov.: 32 AF XY: 0.00695 AC XY: 518AN XY: 74482 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not provided Benign:3
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This variant is associated with the following publications: (PMID: 15661075) -
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at