Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_000138.4(FBN1):c.799_805del (p.Gly267fs)

CA16614686

406374 (ClinVar)

Gene: FBN1
Condition: Marfan syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 747914ff-2d00-4579-af07-c51e4d255ef5

HGVS expressions

NM_000138.4:c.799_805del
NM_000138.4:c.799_805delGGGTCTT
NM_000138.4(FBN1):c.799_805del (p.Gly267fs)
NC_000015.10:g.48534139_48534145del
CM000677.2:g.48534139_48534145del
NC_000015.9:g.48826336_48826342del
CM000677.1:g.48826336_48826342del
NC_000015.8:g.46613628_46613634del
NG_008805.2:g.116646_116652del
ENST00000316623.10:c.799_805del
ENST00000316623.9:c.799_805del
ENST00000537463.6:c.636+3568_636+3574del
NM_000138.5:c.799_805del
NM_000138.5(FBN1):c.799_805del (p.Gly267fs)

Likely Pathogenic

Met criteria codes 2
PVS1 PM2
Not Met criteria codes 16
BA1 BP5 BP1 BP2 BS3 BS4 BS1 PP4 PP1 PS3 PS1 PS4 PS2 PM1 PM5 PM6

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
FBN1 VCEP
The NM_00138 c.799_805del, is a frameshift variant in FBN1 and is predicted to result in a premature stop codon at position 327. It is expected to cause a shift in the reading frame and likely results in an absent or disrupted protein product (PVS1). This variant was reported a pathogenic once in ClinVar (Variation ID: 406374). This variant is not present in gnomAD v2.1.1 (PM2_sup; https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as likely pathogenic for Marfan syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen FBN1 VCEP: PVS1, PM2_supporting.
Met criteria codes
PVS1
Truncating variants in FBN1 are known to be pathogenic (ClinVar database; PMID: 17657824, 19293843).
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Not Met criteria codes
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2023-06-15
Published on: 2023-06-15
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