NM_001063.4:c.1936A>G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The NM_001063.4(TF):c.1936A>G(p.Lys646Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt. Synonymous variant affecting the same amino acid position (i.e. K646K) has been classified as Likely benign.
Frequency
Consequence
NM_001063.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TF | NM_001063.4 | c.1936A>G | p.Lys646Glu | missense_variant | Exon 16 of 17 | ENST00000402696.9 | NP_001054.2 | |
TF | NM_001354703.2 | c.1804A>G | p.Lys602Glu | missense_variant | Exon 22 of 23 | NP_001341632.2 | ||
TF | NM_001354704.2 | c.1555A>G | p.Lys519Glu | missense_variant | Exon 15 of 16 | NP_001341633.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TF | ENST00000402696.9 | c.1936A>G | p.Lys646Glu | missense_variant | Exon 16 of 17 | 1 | NM_001063.4 | ENSP00000385834.3 | ||
TF | ENST00000467842.1 | n.2930A>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 1 | |||||
TF | ENST00000461695.1 | n.*236A>G | non_coding_transcript_exon_variant | Exon 6 of 7 | 3 | ENSP00000419714.1 | ||||
TF | ENST00000461695.1 | n.*236A>G | 3_prime_UTR_variant | Exon 6 of 7 | 3 | ENSP00000419714.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Transferrin variant Bv Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at