Genetic Variant KRT72:p.Gly468Asp (chr12-52586114-GC-AT) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

Our verdict is . The variant received 0 ACMG points: 0P and 0B.

The NM_080747.3(KRT72):c.1403_1404delGCinsAT(p.Gly468Asp) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.

Frequency

Genomes: not found (cov: 33)

Consequence

KRT72
NM_080747.3 missense

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 3.81

Publications

0 publications found

Variant links:

Genes affected

KRT72 (HGNC:28932): (keratin 72) Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]

KRT72 links:

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new If you want to explore the variant's impact on the transcript NM_080747.3, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_080747.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
KRT72	NM_080747.3	MANE Select	c.1403_1404delGCinsAT	p.Gly468Asp	missense	N/A	NP_542785.1	Q14CN4-1
KRT72	NM_001146225.2		c.1403_1404delGCinsAT	p.Gly468Asp	missense	N/A	NP_001139697.1	Q14CN4-1
KRT72	NM_001146226.2		c.1277_1278delGCinsAT	p.Gly426Asp	missense	N/A	NP_001139698.1	Q14CN4-3

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
KRT72	ENST00000293745.7	TSL:1 MANE Select	c.1403_1404delGCinsAT	p.Gly468Asp	missense	N/A	ENSP00000293745.2	Q14CN4-1
KRT72	ENST00000537672.6	TSL:2	c.1403_1404delGCinsAT	p.Gly468Asp	missense	N/A	ENSP00000441160.2	Q14CN4-1
KRT72	ENST00000354310.4	TSL:2	c.1277_1278delGCinsAT	p.Gly426Asp	missense	N/A	ENSP00000346269.4	Q14CN4-3

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

3.8

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over