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

Variant names:

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

Variant summary

Our verdict is Uncertain significance. Variant got 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

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

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GLYAT	NM_201648.3	c.81+520G>.		intron_variant	Intron 2 of 5	ENST00000344743.8	NP_964011.2
GLYAT	NM_005838.4	c.81+520G>.		intron_variant	Intron 2 of 4		NP_005829.3
GLYAT	XM_017017087.1	c.-339+520G>.		intron_variant	Intron 1 of 5		XP_016872576.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GLYAT	ENST00000344743.8	c.81+520G>.		intron_variant	Intron 2 of 5	1	NM_201648.3	ENSP00000340200.3
GLYAT	ENST00000278400.3	c.81+520G>.		intron_variant	Intron 2 of 4	1		ENSP00000278400.3
GLYAT	ENST00000529732.5	c.81+520G>.		intron_variant	Intron 2 of 5	5		ENSP00000431688.1
GLYAT	ENST00000611865.4	c.81+520G>.		intron_variant	Intron 1 of 4	3		ENSP00000484592.1

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 v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr11-58491369;