chr1-11847546-G-A
Variant names:
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_006172.4(NPPA):c.123+16C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.092 in 1,614,006 control chromosomes in the GnomAD database, including 8,829 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.13 ( 2084 hom., cov: 32)
Exomes 𝑓: 0.088 ( 6745 hom. )
Consequence
NPPA
NM_006172.4 intron
NM_006172.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.517
Genes affected
NPPA (HGNC:7939): (natriuretic peptide A) The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]
CLCN6 (HGNC:2024): (chloride voltage-gated channel 6) This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
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ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
Variant 1-11847546-G-A is Benign according to our data. Variant chr1-11847546-G-A is described in ClinVar as [Benign]. Clinvar id is 36663.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr1-11847546-G-A is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.28 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.135 AC: 20525AN: 152070Hom.: 2084 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
20525
AN:
152070
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD2 exomes AF: 0.0857 AC: 21539AN: 251394 AF XY: 0.0840 show subpopulations
GnomAD2 exomes
AF:
AC:
21539
AN:
251394
AF XY:
Gnomad AFR exome
AF:
Gnomad AMR exome
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Gnomad ASJ exome
AF:
Gnomad EAS exome
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Gnomad FIN exome
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Gnomad NFE exome
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Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.0875 AC: 127941AN: 1461818Hom.: 6745 Cov.: 33 AF XY: 0.0883 AC XY: 64213AN XY: 727202 show subpopulations
GnomAD4 exome
AF:
AC:
127941
AN:
1461818
Hom.:
Cov.:
33
AF XY:
AC XY:
64213
AN XY:
727202
show subpopulations
African (AFR)
AF:
AC:
9764
AN:
33476
American (AMR)
AF:
AC:
2749
AN:
44724
Ashkenazi Jewish (ASJ)
AF:
AC:
1613
AN:
26136
East Asian (EAS)
AF:
AC:
183
AN:
39700
South Asian (SAS)
AF:
AC:
9476
AN:
86252
European-Finnish (FIN)
AF:
AC:
2285
AN:
53412
Middle Eastern (MID)
AF:
AC:
776
AN:
5768
European-Non Finnish (NFE)
AF:
AC:
95490
AN:
1111954
Other (OTH)
AF:
AC:
5605
AN:
60396
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.477
Heterozygous variant carriers
0
7404
14807
22211
29614
37018
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome AF: 0.135 AC: 20534AN: 152188Hom.: 2084 Cov.: 32 AF XY: 0.132 AC XY: 9826AN XY: 74414 show subpopulations
GnomAD4 genome
AF:
AC:
20534
AN:
152188
Hom.:
Cov.:
32
AF XY:
AC XY:
9826
AN XY:
74414
show subpopulations
African (AFR)
AF:
AC:
11769
AN:
41466
American (AMR)
AF:
AC:
1367
AN:
15300
Ashkenazi Jewish (ASJ)
AF:
AC:
180
AN:
3472
East Asian (EAS)
AF:
AC:
35
AN:
5172
South Asian (SAS)
AF:
AC:
463
AN:
4828
European-Finnish (FIN)
AF:
AC:
430
AN:
10610
Middle Eastern (MID)
AF:
AC:
47
AN:
294
European-Non Finnish (NFE)
AF:
AC:
5868
AN:
68018
Other (OTH)
AF:
AC:
285
AN:
2116
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.500
Heterozygous variant carriers
0
830
1660
2490
3320
4150
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
187
AN:
3478
ClinVar
Significance: Benign
Submissions summary: Benign:5
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
-
Breakthrough Genomics, Breakthrough Genomics
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:not provided
- -
Jul 23, 2019
GeneDx
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
not specified Benign:1
-
PreventionGenetics, part of Exact Sciences
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
Atrial fibrillation, familial, 6 Benign:1
Feb 03, 2025
Labcorp Genetics (formerly Invitae), Labcorp
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
Cardiac arrhythmia Benign:1
Aug 18, 2011
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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