chr15-73322587-CCAAA-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PVS1_ModerateBS2
The NM_005477.3(HCN4):c.3502_3505delTTTG(p.Phe1168GlyfsTer12) variant causes a frameshift change. The variant allele was found at a frequency of 0.000112 in 1,610,494 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_005477.3 frameshift
Scores
Clinical Significance
Conservation
Publications
- sick sinus syndrome 2, autosomal dominantInheritance: AD Classification: DEFINITIVE, STRONG Submitted by: ClinGen, Genomics England PanelApp, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- Brugada syndrome 8Inheritance: AD Classification: MODERATE, LIMITED Submitted by: Genomics England PanelApp, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- familial sick sinus syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- Brugada syndrome 1Inheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_005477.3. You can select a different transcript below to see updated ACMG assignments.
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152144Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000108 AC: 26AN: 240632 AF XY: 0.0000841 show subpopulations
GnomAD4 exome AF: 0.000104 AC: 152AN: 1458350Hom.: 0 AF XY: 0.0000883 AC XY: 64AN XY: 725078 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000184 AC: 28AN: 152144Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74288 show subpopulations
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at