chr8-7718012-C-T
Variant names:
Variant summary
Our verdict is Benign. The variant received -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_001164452.1(FAM90A14):c.954C>T(p.Ser318Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: not found (cov: 0)
Exomes 𝑓: 0.000025 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
FAM90A14
NM_001164452.1 synonymous
NM_001164452.1 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -2.82
Publications
0 publications found
Genes affected
FAM90A14 (HGNC:32262): (family with sequence similarity 90 member A14) FAM90A14 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010]
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -7 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.03).
BP6
Variant 8-7718012-C-T is Benign according to our data. Variant chr8-7718012-C-T is described in ClinVar as Likely_benign. ClinVar VariationId is 2658364.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-2.82 with no splicing effect.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001164452.1. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| FAM90A14 | NM_001164452.1 | MANE Select | c.954C>T | p.Ser318Ser | synonymous | Exon 4 of 4 | NP_001157924.1 | P0C7W9 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| FAM90A14 | ENST00000648315.1 | MANE Select | c.954C>T | p.Ser318Ser | synonymous | Exon 4 of 4 | ENSP00000497439.1 | P0C7W9 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
0
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000247 AC: 3AN: 121616Hom.: 0 Cov.: 0 AF XY: 0.0000151 AC XY: 1AN XY: 66138 show subpopulations
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
3
AN:
121616
Hom.:
Cov.:
0
AF XY:
AC XY:
1
AN XY:
66138
show subpopulations
African (AFR)
AF:
AC:
0
AN:
2646
American (AMR)
AF:
AC:
0
AN:
10626
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3962
East Asian (EAS)
AF:
AC:
2
AN:
2790
South Asian (SAS)
AF:
AC:
0
AN:
18056
European-Finnish (FIN)
AF:
AC:
0
AN:
5206
Middle Eastern (MID)
AF:
AC:
1
AN:
492
European-Non Finnish (NFE)
AF:
AC:
0
AN:
71902
Other (OTH)
AF:
AC:
0
AN:
5936
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.458
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Exome Het
Variant carriers
0
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4
6
8
10
<30
30-35
35-40
40-45
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55-60
60-65
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>80
Age
GnomAD4 genome
GnomAD4 genome
Cov.:
0
ClinVar
ClinVar submissions
View on ClinVar Significance:Likely benign
Revision:criteria provided, single submitter
Pathogenic
VUS
Benign
Condition
-
-
1
not provided (1)
Computational 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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