6-83918008-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016230.4(CYB5R4):c.449T>C(p.Met150Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,457,962 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016230.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 251022Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135684
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1457962Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 2AN XY: 725404
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.449T>C (p.M150T) alteration is located in exon 6 (coding exon 6) of the CYB5R4 gene. This alteration results from a T to C substitution at nucleotide position 449, causing the methionine (M) at amino acid position 150 to be replaced by a threonine (T). 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