dbSNP rs991246: AADAT:c.68-151A>T (chr4-170088715-T-A) – ACMG Classification: Benign (-12 pts)

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_016228.4(AADAT):c.68-151A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0101 in 798,058 control chromosomes in the GnomAD database, including 476 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.036 ( 336 hom., cov: 31)

Exomes 𝑓: 0.0039 ( 140 hom. )

Consequence

AADAT
NM_016228.4 intron

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.861

Publications

1 publications found

Variant links:

Genes affected

AADAT (HGNC:17929): (aminoadipate aminotransferase) This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

AADAT links:

ENSG00000296173 (HGNC:):

ENSG00000296173 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -12 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.85).

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.123 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_016228.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank	Protein	UniProt
AADAT	NM_016228.4	MANE Select	c.68-151A>T	intron	N/A	NP_057312.1	Q8N5Z0-1
AADAT	NM_001286682.2		c.80-151A>T	intron	N/A	NP_001273611.1	Q8N5Z0-2
AADAT	NM_001286683.1		c.68-151A>T	intron	N/A	NP_001273612.1	Q4W5N8

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank	Protein	UniProt
AADAT	ENST00000337664.9	TSL:1 MANE Select	c.68-151A>T	intron	N/A	ENSP00000336808.4	Q8N5Z0-1
AADAT	ENST00000509167.5	TSL:1	c.80-151A>T	intron	N/A	ENSP00000423190.1	Q8N5Z0-2
AADAT	ENST00000515480.5	TSL:1	c.68-151A>T	intron	N/A	ENSP00000423341.1	Q8N5Z0-1

Frequencies

GnomAD3 genomes

AF:

0.0363

AC:

5524

AN:

152142

Hom.:

335

Cov.:

show subpopulations

Gnomad AFR

AF:

0.125

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.0164

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.000621

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.000309

Gnomad OTH

AF:

0.0277

GnomAD4 exome

AF:

0.00392

AC:

2529

AN:

645798

Hom.:

140

AF XY:

0.00335

AC XY:

1105

AN XY:

329556

show subpopulations

African (AFR)

AF:

0.122

AC:

1964

AN:

16086

American (AMR)

AF:

0.00957

AC:

215

AN:

22464

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

15068

East Asian (EAS)

AF:

0.00

AC:

AN:

32284

South Asian (SAS)

AF:

0.000222

AC:

AN:

45092

European-Finnish (FIN)

AF:

0.00

AC:

AN:

32190

Middle Eastern (MID)

AF:

0.00437

AC:

AN:

2978

European-Non Finnish (NFE)

AF:

0.0000917

AC:

AN:

447226

Other (OTH)

AF:

0.00882

AC:

286

AN:

32410

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.510

Heterozygous variant carriers

109

218

327

436

545

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Exome Het

Exome Hom

Variant carriers

120

160

200

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

GnomAD4 genome

AF:

0.0364

AC:

5542

AN:

152260

Hom.:

336

Cov.:

AF XY:

0.0346

AC XY:

2574

AN XY:

74460

show subpopulations

African (AFR)

AF:

0.125

AC:

5210

AN:

41530

American (AMR)

AF:

0.0164

AC:

251

AN:

15288

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

3472

East Asian (EAS)

AF:

0.00

AC:

AN:

5186

South Asian (SAS)

AF:

0.000414

AC:

AN:

4830

European-Finnish (FIN)

AF:

0.00

AC:

AN:

10614

Middle Eastern (MID)

AF:

0.00

AC:

AN:

294

European-Non Finnish (NFE)

AF:

0.000309

AC:

AN:

68022

Other (OTH)

AF:

0.0274

AC:

AN:

2114

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.502

Heterozygous variant carriers

252

504

756

1008

1260

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

112

168

224

280

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.0268

Hom.:

Bravo

AF:

0.0420

Asia WGS

AF:

0.00779

AC:

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.85

CADD

Benign

2.8

(source)

DANN

Benign

0.62

PhyloP100

0.86

Mutation Taster

=100/0

polymorphism (auto)

(source)

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.010

Details are displayed if max score is > 0.2

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

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

Age Distribution

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over