chr8-1843472-T-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_014629.4(ARHGEF10):c.37+36T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.536 in 1,536,610 control chromosomes in the GnomAD database, including 227,283 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.45 ( 17131 hom., cov: 32)
Exomes 𝑓: 0.55 ( 210152 hom. )
Consequence
ARHGEF10
NM_014629.4 intron
NM_014629.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.428
Genes affected
ARHGEF10 (HGNC:14103): (Rho guanine nucleotide exchange factor 10) This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-1.0).
BP6
?
Variant 8-1843472-T-G is Benign according to our data. Variant chr8-1843472-T-G is described in ClinVar as [Benign]. Clinvar id is 1292938.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.565 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGEF10 | NM_014629.4 | c.37+36T>G | intron_variant | ENST00000349830.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGEF10 | ENST00000349830.8 | c.37+36T>G | intron_variant | 1 | NM_014629.4 | P4 | |||
ARHGEF10 | ENST00000518288.5 | c.109+36T>G | intron_variant | 1 | |||||
ARHGEF10 | ENST00000520359.5 | c.37+36T>G | intron_variant | 1 | A2 | ||||
ARHGEF10 | ENST00000398564.5 | c.109+36T>G | intron_variant | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.451 AC: 68541AN: 151850Hom.: 17131 Cov.: 32
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GnomAD3 exomes AF: 0.482 AC: 116069AN: 240852Hom.: 29248 AF XY: 0.488 AC XY: 63714AN XY: 130436
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GnomAD4 exome AF: 0.545 AC: 754845AN: 1384640Hom.: 210152 Cov.: 22 AF XY: 0.542 AC XY: 375524AN XY: 692858
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GnomAD4 genome ? AF: 0.451 AC: 68563AN: 151970Hom.: 17131 Cov.: 32 AF XY: 0.450 AC XY: 33412AN XY: 74274
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 10, 2021 | - - |
Computational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at