5-33988319-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001167595.2(AMACR):āc.1174A>Gā(p.Ile392Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000195 in 1,540,986 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001167595.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AMACR | NM_014324.6 | c.*774A>G | 3_prime_UTR_variant | 5/5 | ENST00000335606.11 | NP_055139.4 | ||
AMACR | NM_001167595.2 | c.1174A>G | p.Ile392Val | missense_variant | 6/6 | NP_001161067.1 | ||
AMACR | NM_203382.3 | c.*1165A>G | 3_prime_UTR_variant | 4/4 | NP_976316.1 | |||
C1QTNF3-AMACR | NR_037951.1 | n.2279A>G | non_coding_transcript_exon_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMACR | ENST00000335606 | c.*774A>G | 3_prime_UTR_variant | 5/5 | 1 | NM_014324.6 | ENSP00000334424.6 | |||
C1QTNF3-AMACR | ENST00000382079.3 | n.*1349A>G | non_coding_transcript_exon_variant | 9/9 | 2 | ENSP00000371511.3 | ||||
C1QTNF3-AMACR | ENST00000382079.3 | n.*1349A>G | 3_prime_UTR_variant | 9/9 | 2 | ENSP00000371511.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1388678Hom.: 0 Cov.: 29 AF XY: 0.00000146 AC XY: 1AN XY: 685568
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74476
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 09, 2022 | The c.1174A>G (p.I392V) alteration is located in exon 6 (coding exon 6) of the AMACR gene. This alteration results from a A to G substitution at nucleotide position 1174, causing the isoleucine (I) at amino acid position 392 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.