ENST00000586098.1:c.89-11135C>G

Variant names:

• chr11-58723896-C-.
• NM_201648.3:c.81+520G>.

Variant summary

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

The NM_201648.3(GLYAT):​c.81+520G>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: GLYAT NM_201648.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

GLYAT (HGNC:13734): (glycine-N-acyltransferase) The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_201648.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GLYAT	NM_201648.3	MANE Select	c.81+520G>.		intron	N/A	NP_964011.2	A0A384P5E3
	GLYAT	NM_005838.4		c.81+520G>.		intron	N/A	NP_005829.3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GLYAT	ENST00000344743.8	TSL:1 MANE Select	c.81+520G>.		intron	N/A	ENSP00000340200.3	Q6IB77-1
	GLYAT	ENST00000278400.3	TSL:1	c.81+520G>.		intron	N/A	ENSP00000278400.3	Q6IB77-2
	GLYAT	ENST00000529732.5	TSL:5	c.81+520G>.		intron	N/A	ENSP00000431688.1	Q6IB77-1

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Splicing

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

Other links and lift over

hg19: chr11-58491369;