chr14-76346352-C-T
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001411038.1(ESRRB):c.2+35436C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.175 in 152,144 control chromosomes in the GnomAD database, including 2,348 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.17 ( 2348 hom., cov: 32)
Consequence
ESRRB
NM_001411038.1 intron
NM_001411038.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.121
Publications
7 publications found
Genes affected
ESRRB (HGNC:3473): (estrogen related receptor beta) This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]
ESRRB Gene-Disease associations (from GenCC):
- autosomal recessive nonsyndromic hearing loss 35Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, G2P, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- nonsyndromic genetic hearing lossInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- hearing loss, autosomal recessiveInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.203 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.175 AC: 26545AN: 152026Hom.: 2345 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
26545
AN:
152026
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:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.175 AC: 26566AN: 152144Hom.: 2348 Cov.: 32 AF XY: 0.174 AC XY: 12929AN XY: 74386 show subpopulations
GnomAD4 genome
AF:
AC:
26566
AN:
152144
Hom.:
Cov.:
32
AF XY:
AC XY:
12929
AN XY:
74386
show subpopulations
African (AFR)
AF:
AC:
7189
AN:
41482
American (AMR)
AF:
AC:
3084
AN:
15298
Ashkenazi Jewish (ASJ)
AF:
AC:
736
AN:
3472
East Asian (EAS)
AF:
AC:
991
AN:
5160
South Asian (SAS)
AF:
AC:
1031
AN:
4814
European-Finnish (FIN)
AF:
AC:
1403
AN:
10596
Middle Eastern (MID)
AF:
AC:
64
AN:
294
European-Non Finnish (NFE)
AF:
AC:
11501
AN:
68004
Other (OTH)
AF:
AC:
373
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.500
Heterozygous variant carriers
0
1110
2219
3329
4438
5548
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
282
564
846
1128
1410
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
733
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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