1-150812070-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001668.4(ARNT):āc.2321A>Gā(p.Asn774Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000749 in 1,574,610 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001668.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARNT | NM_001668.4 | c.2321A>G | p.Asn774Ser | missense_variant | 22/22 | ENST00000358595.10 | NP_001659.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARNT | ENST00000358595.10 | c.2321A>G | p.Asn774Ser | missense_variant | 22/22 | 1 | NM_001668.4 | ENSP00000351407.5 | ||
ARNT | ENST00000471844.6 | n.*338A>G | non_coding_transcript_exon_variant | 17/17 | 2 | ENSP00000425899.1 | ||||
ARNT | ENST00000471844.6 | n.*338A>G | 3_prime_UTR_variant | 17/17 | 2 | ENSP00000425899.1 |
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000130 AC: 3AN: 230468Hom.: 0 AF XY: 0.0000240 AC XY: 3AN XY: 125040
GnomAD4 exome AF: 0.0000773 AC: 110AN: 1422364Hom.: 0 Cov.: 30 AF XY: 0.0000764 AC XY: 54AN XY: 707172
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74400
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 19, 2024 | The c.2321A>G (p.N774S) alteration is located in exon 22 (coding exon 22) of the ARNT gene. This alteration results from a A to G substitution at nucleotide position 2321, causing the asparagine (N) at amino acid position 774 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at