NM_001144.6:c.1385A>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001144.6(AMFR):c.1385A>T(p.His462Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000157 in 1,461,562 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001144.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AMFR | NM_001144.6 | c.1385A>T | p.His462Leu | missense_variant | Exon 11 of 14 | ENST00000290649.10 | NP_001135.3 | |
AMFR | NM_001323512.2 | c.1481A>T | p.His494Leu | missense_variant | Exon 12 of 15 | NP_001310441.1 | ||
AMFR | NM_001323511.2 | c.1100A>T | p.His367Leu | missense_variant | Exon 11 of 14 | NP_001310440.1 | ||
AMFR | XM_005255890.5 | c.1100A>T | p.His367Leu | missense_variant | Exon 11 of 14 | XP_005255947.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMFR | ENST00000290649.10 | c.1385A>T | p.His462Leu | missense_variant | Exon 11 of 14 | 1 | NM_001144.6 | ENSP00000290649.5 | ||
AMFR | ENST00000492830.5 | c.353A>T | p.His118Leu | missense_variant | Exon 4 of 7 | 2 | ENSP00000473636.1 | |||
AMFR | ENST00000567738.1 | c.626A>T | p.His209Leu | missense_variant | Exon 6 of 8 | 5 | ENSP00000456288.1 | |||
AMFR | ENST00000566334.1 | n.59A>T | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 250988Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135652
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461562Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 727066
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1385A>T (p.H462L) alteration is located in exon 11 (coding exon 11) of the AMFR gene. This alteration results from a A to T substitution at nucleotide position 1385, causing the histidine (H) at amino acid position 462 to be replaced by a leucine (L). 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